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[PMID]:28542433
[Au] Autor:Kugita M; Nishii K; Yamaguchi T; Suzuki A; Yuzawa Y; Horie S; Higashihara E; Nagao S
[Ad] Endereço:Education and Research Center of Animal Models for Human Diseases, Fujita Health University, Toyoake, Aichi, Japan.
[Ti] Título:Beneficial effect of combined treatment with octreotide and pasireotide in PCK rats, an orthologous model of human autosomal recessive polycystic kidney disease.
[So] Source:PLoS One;12(5):e0177934, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Increased intracellular cyclic AMP (cAMP) in renal tubular epithelia accelerates the progression of polycystic kidney disease (PKD). Thus, decreasing cAMP levels by an adenylyl cyclase inhibitory G protein activator is considered to be an effective approach in ameliorating PKD. In fact, pasireotide (PAS) was effective in reducing disease progression in animal models of PKD. However, hyperglycemia caused by the administration of PAS is an adverse effect in its clinical use. Whereas, co-administration of octreotide (OCT) with PAS did not increase serum glucose in normal rats. In the current study, we examined the efficacy of combined treatment with OCT and PAS in PCK rats, an autosomal recessive PKD model. Four-week-old PCK males were treated with the long-acting release type of OCT, PAS, or a combination of both (OCT/PAS) for 12 weeks. After termination, serum and renal tissue were used for analyses. Kidney weight, kidney weight per body weight, renal cyst area, renal Ki67 expression, and serum urea nitrogen were significantly decreased either in the PAS or OCT/PAS group, compared with vehicle. Renal tissue cAMP content was significantly decreased by PAS or OCT/PAS treatment, but not OCT, compared with vehicle. As a marker of cellular mTOR signaling activity, renal phospho-S6 kinase expression was significantly decreased by OCT/PAS treatment compared with vehicle, OCT, or PAS. Serum glucose was significantly increased by PAS administration, whereas no difference was shown between vehicle and OCT/PAS, possibly because serum glucagon was decreased either by the treatment of OCT alone or co-application of OCT/PAS. In conclusion, since serum glucose levels are increased by the use of PAS, its combination with OCT may reduce the risk of hyperglycemia associated with PAS monotherapy against PKD progression.
[Mh] Termos MeSH primário: Octreotida/farmacologia
Rim Policístico Autossômico Recessivo/tratamento farmacológico
Somatostatina/análogos & derivados
[Mh] Termos MeSH secundário: Animais
Glicemia/metabolismo
Peso Corporal/efeitos dos fármacos
AMP Cíclico/metabolismo
Modelos Animais de Doenças
Interações Medicamentosas
MAP Quinases Reguladas por Sinal Extracelular/metabolismo
Glucagon/sangue
Coração/efeitos dos fármacos
Coração/fisiologia
Seres Humanos
Hidrocortisona/sangue
Hiperglicemia/induzido quimicamente
Insulina/sangue
Fator de Crescimento Insulin-Like I/metabolismo
Antígeno Ki-67/metabolismo
Rim/efeitos dos fármacos
Rim/metabolismo
Rim/patologia
Rim/fisiopatologia
Fígado/efeitos dos fármacos
Fígado/metabolismo
Fígado/patologia
Masculino
Octreotida/efeitos adversos
Octreotida/uso terapêutico
Fosfoproteínas/metabolismo
Rim Policístico Autossômico Recessivo/metabolismo
Rim Policístico Autossômico Recessivo/patologia
Rim Policístico Autossômico Recessivo/fisiopatologia
Ratos
Receptor IGF Tipo 1/sangue
Proteínas Quinases S6 Ribossômicas/metabolismo
Somatostatina/efeitos adversos
Somatostatina/farmacologia
Somatostatina/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Blood Glucose); 0 (Insulin); 0 (Ki-67 Antigen); 0 (Phosphoproteins); 51110-01-1 (Somatostatin); 67763-96-6 (Insulin-Like Growth Factor I); 9007-92-5 (Glucagon); 98H1T17066 (pasireotide); E0399OZS9N (Cyclic AMP); EC 2.7.10.1 (Receptor, IGF Type 1); EC 2.7.11.1 (Ribosomal Protein S6 Kinases); EC 2.7.11.24 (Extracellular Signal-Regulated MAP Kinases); RWM8CCW8GP (Octreotide); WI4X0X7BPJ (Hydrocortisone)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170526
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0177934


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[PMID]:28530676
[Au] Autor:Lu H; Galeano MCR; Ott E; Kaeslin G; Kausalya PJ; Kramer C; Ortiz-Brüchle N; Hilger N; Metzis V; Hiersche M; Tay SY; Tunningley R; Vij S; Courtney AD; Whittle B; Wühl E; Vester U; Hartleben B; Neuber S; Frank V; Little MH; Epting D; Papathanasiou P; Perkins AC; Wright GD; Hunziker W; Gee HY; Otto EA; Zerres K; Hildebrandt F; Roy S; Wicking C; Bergmann C
[Ad] Endereço:Institute of Molecular and Cell Biology, Singapore.
[Ti] Título:Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
[So] Source:Nat Genet;49(7):1025-1034, 2017 Jul.
[Is] ISSN:1546-1718
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneous disease caused by mutations in PKHD1, has been associated with ciliary dysfunction. Here, we describe mutations in DZIP1L, which encodes DAZ interacting protein 1-like, in patients with ARPKD. We further validated these findings through loss-of-function studies in mice and zebrafish. DZIP1L localizes to centrioles and to the distal ends of basal bodies, and interacts with septin2, a protein implicated in maintenance of the periciliary diffusion barrier at the ciliary transition zone. In agreement with a defect in the diffusion barrier, we found that the ciliary-membrane translocation of the PKD proteins polycystin-1 and polycystin-2 is compromised in DZIP1L-mutant cells. Together, these data provide what is, to our knowledge, the first conclusive evidence that ARPKD is not a homogeneous disorder and further establish DZIP1L as a second gene involved in ARPKD pathogenesis.
[Mh] Termos MeSH primário: Rim Policístico Autossômico Recessivo/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/embriologia
Anormalidades Múltiplas/genética
Proteínas Adaptadoras de Transdução de Sinal/deficiência
Proteínas Adaptadoras de Transdução de Sinal/genética
Proteínas Adaptadoras de Transdução de Sinal/fisiologia
Animais
Centríolos/metabolismo
Cromossomos Humanos Par 3/genética
Cílios/metabolismo
Consanguinidade
Modelos Animais de Doenças
Embrião não Mamífero/anormalidades
Feminino
Técnicas de Silenciamento de Genes
Ligação Genética
Seres Humanos
Masculino
Proteínas de Membrana/metabolismo
Camundongos
Camundongos Endogâmicos C57BL
Linhagem
Rim Policístico Autossômico Recessivo/embriologia
Transporte Proteico
Septinas/metabolismo
Canais de Cátion TRPP/metabolismo
Peixe-Zebra/embriologia
Peixe-Zebra/genética
Proteínas de Peixe-Zebra/deficiência
Proteínas de Peixe-Zebra/genética
Proteínas de Peixe-Zebra/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adaptor Proteins, Signal Transducing); 0 (DZIP1L protein, human); 0 (DZIP1L protein, mouse); 0 (DZIP1L protein, zebrafish); 0 (Membrane Proteins); 0 (TRPP Cation Channels); 0 (Zebrafish Proteins); 0 (polycystic kidney disease 1 protein); 0 (polycystic kidney disease 2 protein); EC 3.6.1.- (Septins); EC 3.6.1.- (septin 2 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170523
[St] Status:MEDLINE
[do] DOI:10.1038/ng.3871


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[PMID]:28283827
[Au] Autor:Erger F; Brüchle NO; Gembruch U; Zerres K
[Ad] Endereço:Institute of Human Genetics, RWTH Aachen University Hospital, Pauwelsstr. 30, 52074, Aachen, Germany.
[Ti] Título:Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
[So] Source:Arch Gynecol Obstet;295(4):897-906, 2017 Apr.
[Is] ISSN:1432-0711
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To investigate the sonographic and clinical genotype-phenotype correlations in autosomal recessive polycystic kidney disease (ARPKD) and other cystic kidney diseases (CKD) in a large cohort of prenatally detected fetuses with hereditary CKD. METHODS: We retrospectively studied the clinical and diagnostic data of 398 patients referred with prenatal ultrasound findings suggestive of CKD between 1994 and 2010. Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors of clinical outcome. RESULTS: ARPKD was most common in our non-representative sample. Truncating PKHD1 mutations led to a significantly reduced neonatal prognosis, with two such mutations being invariably lethal. Sonographically visible kidney cysts occurred in only 3% of ARPKD cases. Renal abnormalities in Meckel syndrome (MKS) appeared earlier than in ADPKD (19.6 ± 3.7 vs. 29.8 ± 5.1 GW) or ARPKD (19.6 ± 3.7 vs. 30.2 ± 1.2 GW). Additional CNS malformations were not found in ARPKD, but were highly sensitive for MKS. Pulmonary hypoplasia, oligo/anhydramnios (OAH), and kidney enlargement were associated with a significantly worse neonatal prognosis. CONCLUSION: Genotype, sonographic signs of OAH, enlarged kidney size, and pulmonary hypoplasia can be useful predictors of neonatal survival. We propose sonographic morphological criteria for ARPKD, ADPKD, MKS, and renal cyst and diabetes syndrome (RCAD). We further propose a clinical diagnostic algorithm for differentiating cystic kidney diseases.
[Mh] Termos MeSH primário: Estudos de Associação Genética
Rim Policístico Autossômico Recessivo/diagnóstico por imagem
[Mh] Termos MeSH secundário: Transtornos da Motilidade Ciliar/diagnóstico por imagem
Diagnóstico Diferencial
Encefalocele/diagnóstico por imagem
Feminino
Seres Humanos
Estimativa de Kaplan-Meier
Rim/anormalidades
Rim/diagnóstico por imagem
Masculino
Mutação
Doenças Renais Policísticas/diagnóstico por imagem
Rim Policístico Autossômico Recessivo/embriologia
Rim Policístico Autossômico Recessivo/genética
Prognóstico
Receptores de Superfície Celular/genética
Estudos Retrospectivos
Ultrassonografia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PKHD1 protein, human); 0 (Receptors, Cell Surface)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170312
[St] Status:MEDLINE
[do] DOI:10.1007/s00404-017-4336-6


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[PMID]:28237043
[Au] Autor:Lai J; Modi L; Ramai D; Tortora M
[Ad] Endereço:Department of Pathology, St. Barnabas Medical Center, 94 Old Short Hills Rd, Livingston, NJ 07039, United States.
[Ti] Título:Tuberous sclerosis complex and polycystic kidney disease contiguous gene syndrome with Moyamoya disease.
[So] Source:Pathol Res Pract;213(4):410-415, 2017 Apr.
[Is] ISSN:1618-0631
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two diseases sharing close genetic loci on chromosome 16. Due to contiguous gene syndrome, also known as contiguous gene deletion syndrome, the proximity of TSC2 and PKD1 genes increases the risk of co-deletion resulting in a shared clinical presentation. Furthermore, Moyamoya disease (MMD) is a rare vaso-occlusive disease in the circle of Willis. We present the first case of TSC2/PKD1 contiguous gene syndrome in a patient with MMD along with detailed histopathologic, radiologic, and cytogenetic analyses. We also highlight the clinical presentation and surgical complications in this case.
[Mh] Termos MeSH primário: Doença de Moyamoya/complicações
Doença de Moyamoya/patologia
Rim Policístico Autossômico Recessivo/complicações
Rim Policístico Autossômico Recessivo/patologia
Esclerose Tuberosa/complicações
Esclerose Tuberosa/patologia
[Mh] Termos MeSH secundário: Seres Humanos
Rim/patologia
Masculino
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170227
[St] Status:MEDLINE


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[PMID]:27862900
[Au] Autor:Kitajima K; Ogawa Y; Miki K; Kai K; Sannomiya A; Iwadoh K; Murakami T; Koyama I; Nakajima I; Fuchinoue S
[Ad] Endereço:Department of Surgery, Kidney Center, Tokyo Women's Medical University, Tokyo, Japan.
[Ti] Título:Longterm renal allograft survival after sequential liver-kidney transplantation from a single living donor.
[So] Source:Liver Transpl;23(3):315-323, 2017 Mar.
[Is] ISSN:1527-6473
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Combined liver-kidney transplantation (CLKT) is well established as a definitive therapy with the potential to provide complete recovery for certain liver-kidney diseases, although the results might be contingent on the cause of transplantation. The purposes of the present study were to review the longterm outcome of renal allografts in CLKT patients from single living donors and to investigate the beneficial factors, compared with solitary renal transplantation. Thirteen patients underwent sequential liver transplantation (LT) and kidney transplantation (KT) from single living donors. The indications for KT were oxaluria (n = 7), autosomal recessive polycystic disease (n = 3), and others (n = 3). The same immunosuppressive regimen used after LT was also used after KT. KT was performed between 1.7 and 47.0 months after the LT. The overall patient survival rate was 92.3% at 10 years. In 12 of the 13 surviving patients, the renal allografts were found to be functioning in 11 patients after a mean follow-up period of 103.6 months. The death-censored renal allograft survival rate at 10 years was 100%, which was better than that of KT alone (84.9%) in Japan. Immunological protection conferred by the preceding liver allograft may have contributed to the longterm outcomes of the renal allografts. In addition, the donation of double organs from a single living and related donor may have a favorable impact on the graft survival rate. In the future, investigations of factors affecting the longterm outcome of renal allografts, including details of the involvement of de novo donor-specific antibody, will be needed. Liver Transplantation 23 315-323 2017 AASLD.
[Mh] Termos MeSH primário: Doença Hepática Terminal/cirurgia
Rejeição de Enxerto/epidemiologia
Sobrevivência de Enxerto
Falência Renal Crônica/cirurgia
Transplante de Rim/efeitos adversos
Transplante de Fígado/efeitos adversos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Aloenxertos/imunologia
Aloenxertos/patologia
Biópsia
Criança
Pré-Escolar
Doença Hepática Terminal/etiologia
Feminino
Seguimentos
Rejeição de Enxerto/imunologia
Rejeição de Enxerto/prevenção & controle
Seres Humanos
Hiperoxalúria/complicações
Hiperoxalúria/cirurgia
Imunossupressores/uso terapêutico
Lactente
Japão/epidemiologia
Rim/imunologia
Rim/patologia
Falência Renal Crônica/etiologia
Transplante de Rim/métodos
Fígado/imunologia
Fígado/patologia
Transplante de Fígado/métodos
Doadores Vivos
Masculino
Rim Policístico Autossômico Recessivo/complicações
Rim Policístico Autossômico Recessivo/cirurgia
Taxa de Sobrevida
Coleta de Tecidos e Órgãos/métodos
Transplante Homólogo/efeitos adversos
Transplante Homólogo/métodos
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Immunosuppressive Agents)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE
[do] DOI:10.1002/lt.24676


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[PMID]:27891514
[Au] Autor:Jiang L; Fang P; Weemhoff JL; Apte U; Pritchard MT
[Ad] Endereço:Department of Pharmacology, Toxicology and Therapeutics, University of Kansas Medical Center, 3901 Rainbow Blvd, Kansas City, KS 66160, USA.
[Ti] Título:Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease.
[So] Source:Biomed Res Int;2016:4918798, 2016.
[Is] ISSN:2314-6141
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Autosomal recessive polycystic kidney disease (ARPKD) is a severe monogenic disorder that occurs due to mutations in the gene. Congenital hepatic fibrosis (CHF) associated with ARPKD is characterized by the presence of hepatic cysts derived from dilated bile ducts and a robust, pericystic fibrosis. Cyst growth, due to cyst wall epithelial cell hyperproliferation and fluid secretion, is thought to be the driving force behind disease progression. Liver fibrosis is a wound healing response in which collagen accumulates in the liver due to an imbalance between extracellular matrix synthesis and degradation. Whereas both hyperproliferation and pericystic fibrosis are hallmarks of CHF/ARPKD, whether or not these two processes influence one another remains unclear. Additionally, recent studies demonstrate that inflammation is a common feature of CHF/ARPKD. Therefore, we propose a "pathogenic triumvirate" consisting of hyperproliferation of cyst wall growth, pericystic fibrosis, and inflammation which drives CHF/ARPKD progression. This review will summarize what is known regarding the mechanisms of cyst growth, fibrosis, and inflammation in CHF/ARPKD. Further, we will discuss the potential advantage of identifying a core pathogenic feature in CHF/ARPKD to aid in the development of novel therapeutic approaches. If a core pathogenic feature does not exist, then developing multimodality therapeutic approaches to target each member of the "pathogenic triumvirate" individually may be a better strategy to manage this debilitating disease.
[Mh] Termos MeSH primário: Doenças Genéticas Inatas/complicações
Doenças Genéticas Inatas/patologia
Cirrose Hepática/complicações
Cirrose Hepática/patologia
Rim Policístico Autossômico Recessivo/complicações
Rim Policístico Autossômico Recessivo/patologia
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Doenças Genéticas Inatas/terapia
Seres Humanos
Inflamação/complicações
Inflamação/patologia
Cirrose Hepática/terapia
Rim Policístico Autossômico Recessivo/genética
Rim Policístico Autossômico Recessivo/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170506
[Lr] Data última revisão:
170506
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161129
[St] Status:MEDLINE


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[PMID]:27752906
[Au] Autor:Tong YQ; Liu B; Fu CH; Zheng HY; Gu J; Liu H; Luo HB; Li Y
[Ad] Endereço:Department of Clinical Laboratory, Renmin Hospital of Wuhan University, Wuhan, 430060, China.
[Ti] Título:Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.
[So] Source:J Huazhong Univ Sci Technolog Med Sci;36(5):758-766, 2016 Oct.
[Is] ISSN:1672-0733
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:PKHD1 gene mutations are found responsible for autosomal recessive polycystic kidney disease (ARPKD). However, it is inconvenient to detect the mutations by common polymerase chain reaction (PCR) because the open reading frame of PKHD1 is very long. Recently, long-range (LR) PCR is demonstrated to be a more sensitive mutation screening method for PKHD1 by directly sequencing. In this study, the entire PKHD1 coding region was amplified by 29 reactions to avoid the specific PCR amplification of individual exons, which generated the size of 1 to 7 kb products by LR PCR. This method was compared to the screening method with standard direct sequencing of each individual exon of the gene by a reference laboratory in 15 patients with ARPKD. The results showed that a total of 37 genetic changes were detected with LR PCR sequencing, which included 33 variations identified by the reference laboratory with standard direct sequencing. LR PCR sequencing had 100% sensitivity, 96% specificity, and 97.0% accuracy, which were higher than those with standard direct sequencing method. In conclusion, LR PCR sequencing is a reliable method with high sensitivity, specificity and accuracy for detecting genetic variations. It also has more intronic coverage and lower cost, and is an applicable clinical method for complex genetic analyses.
[Mh] Termos MeSH primário: Genótipo
Rim Policístico Autossômico Recessivo/genética
Receptores de Superfície Celular/genética
[Mh] Termos MeSH secundário: Análise Mutacional de DNA
Éxons/genética
Testes Genéticos
Seres Humanos
Íntrons/genética
Mutação
Rim Policístico Autossômico Recessivo/diagnóstico
Reação em Cadeia da Polimerase
Receptores de Superfície Celular/isolamento & purificação
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PKHD1 protein, human); 0 (Receptors, Cell Surface)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171104
[Lr] Data última revisão:
171104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161019
[St] Status:MEDLINE


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[PMID]:27695033
[Au] Autor:Nieto JA; Yamin MA; Goldberg ID; Narayan P
[Ad] Endereço:Department of Preclinical Research, Angion Biomedica Corp., Uniondale, New York, United States of America.
[Ti] Título:An Empirical Biomarker-Based Calculator for Cystic Index in a Model of Autosomal Recessive Polycystic Kidney Disease-The Nieto-Narayan Formula.
[So] Source:PLoS One;11(10):e0163063, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Autosomal recessive polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts. The disease is congenital and children that do not succumb to it during the neonatal period will, by age 10 years, more often than not, require nephrectomy+renal replacement therapy for management of both pain and renal insufficiency. Since increasing cystic index (CI; percent of kidney occupied by cysts) drives both renal expansion and organ dysfunction, management of these patients, including decisions such as elective nephrectomy and prioritization on the transplant waitlist, could clearly benefit from serial determination of CI. So also, clinical trials in ARPKD evaluating the efficacy of novel drug candidates could benefit from serial determination of CI. Although ultrasound is currently the imaging modality of choice for diagnosis of ARPKD, its utilization for assessing disease progression is highly limited. Magnetic resonance imaging or computed tomography, although more reliable for determination of CI, are expensive, time-consuming and somewhat impractical in the pediatric population. Using a well-established mammalian model of ARPKD, we undertook a big data-like analysis of minimally- or non-invasive blood and urine biomarkers of renal injury/dysfunction to derive a family of equations for estimating CI. We then applied a signal averaging protocol to distill these equations to a single empirical formula for calculation of CI. Such a formula will eventually find use in identifying and monitoring patients at high risk for progressing to end-stage renal disease and aid in the conduct of clinical trials.
[Mh] Termos MeSH primário: Biomarcadores
Rim Policístico Autossômico Recessivo/sangue
Rim Policístico Autossômico Recessivo/urina
Insuficiência Renal/sangue
Insuficiência Renal/urina
[Mh] Termos MeSH secundário: Animais
Biomarcadores/sangue
Biomarcadores/urina
Nitrogênio da Ureia Sanguínea
Criança
Creatinina/sangue
Cistatina C/sangue
Cistos/patologia
Receptor Celular 1 do Vírus da Hepatite A/sangue
Seres Humanos
Interleucina-18/sangue
Rim/diagnóstico por imagem
Rim/metabolismo
Rim/fisiopatologia
Transplante de Rim
Lipocalina-2/sangue
Imagem por Ressonância Magnética
Camundongos
Rim Policístico Autossômico Recessivo/diagnóstico por imagem
Rim Policístico Autossômico Recessivo/patologia
Ratos
Insuficiência Renal/patologia
Índice de Gravidade de Doença
Ultrassonografia
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Nome de substância:
0 (Biomarkers); 0 (Cystatin C); 0 (HAVCR1 protein, human); 0 (Hepatitis A Virus Cellular Receptor 1); 0 (Interleukin-18); 0 (Lipocalin-2); AYI8EX34EU (Creatinine)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170621
[Lr] Data última revisão:
170621
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161004
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0163063


  9 / 525 MEDLINE  
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[PMID]:27577217
[Au] Autor:Xiang Y; Li H; Xu C; Dong X; Xu X; Chen C; Tang S
[Ad] Endereço:Central Laboratory, Department of Ultrasonography, The Central Hospital of Wenzhou, Wenzhou, Zhejiang 325000, China. Email: 18758740788@163.com.
[Ti] Título:[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;33(5):662-5, 2016 Oct.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD). METHODS: Genomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was analyzed using PolyPhen-2 and SIFT software. RESULTS: Compound heterozygous mutations of c.11314C>T (p.Arg3772*) and a novel missense c.889T>A (p.Cys297Ser) of the PKHD1 gene were identified in the fetus. The mother was found to have carried the c.11314C>T mutation, while the father was found to have carried the c.889T>A mutation. PolyPhen-2 and SIFT predicted that the c.889T>A mutation is probably damaging. CONCLUSION: A novel mutation in PKHD1 gene was detected in our ARPKD family. Compound heterozygous PKHD1 mutations were elucidated to be the molecular basis for the fetus affected with ARPKD, which has facilitated genetic counseling and implement of prenatal diagnosis for the family.
[Mh] Termos MeSH primário: Doenças Fetais/genética
Mutação
Rim Policístico Autossômico Recessivo/genética
Receptores de Superfície Celular/genética
[Mh] Termos MeSH secundário: Aborto Eugênico
Adulto
Sequência de Aminoácidos
Sequência de Bases
Análise Mutacional de DNA
Saúde da Família
Evolução Fatal
Feminino
Doenças Fetais/diagnóstico por imagem
Feto/anormalidades
Feto/metabolismo
Seres Humanos
Masculino
Rim Policístico Autossômico Recessivo/diagnóstico por imagem
Rim Policístico Autossômico Recessivo/embriologia
Gravidez
Homologia de Sequência de Aminoácidos
Ultrassonografia Pré-Natal/métodos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (PKHD1 protein, human); 0 (Receptors, Cell Surface)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170105
[Lr] Data última revisão:
170105
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160901
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2016.05.018


  10 / 525 MEDLINE  
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[PMID]:27555106
[Au] Autor:Mekahli D; van Stralen KJ; Bonthuis M; Jager KJ; Balat A; Benetti E; Godefroid N; Edvardsson VO; Heaf JG; Jankauskiene A; Kerecuk L; Marinova S; Puteo F; Seeman T; Zurowska A; Pirenne J; Schaefer F; Groothoff JW; ESPN/ERA-EDTA Registry
[Ad] Endereço:Department of Pediatric Nephrology, University Hospitals of Leuven, Leuven, Belgium; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
[Ti] Título:Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry.
[So] Source:Am J Kidney Dis;68(5):782-788, 2016 Nov.
[Is] ISSN:1523-6838
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The choice for either kidney or combined liver-kidney transplantation in young people with kidney failure and liver fibrosis due to autosomal recessive polycystic kidney disease (ARPKD) can be challenging. We aimed to analyze the characteristics and outcomes of transplantation type in these children, adolescents, and young adults. STUDY DESIGN: Cohort study. SETTING & PARTICIPANTS: We derived data for children, adolescents, and young adults with ARPKD with either kidney or combined liver-kidney transplants for 1995 to 2012 from the ESPN/ERA-EDTA Registry, a European pediatric renal registry collecting data from 36 European countries. FACTOR: Liver transplantation. OUTCOMES & MEASUREMENTS: Transplantation and patient survival. RESULTS: 202 patients with ARPKD aged 19 years or younger underwent transplantation after a median of 0.4 (IQR, 0.0-1.4) years on dialysis therapy at a median age of 9.0 (IQR, 4.1-13.7) years. 32 (15.8%) underwent combined liver-kidney transplantation, 163 (80.7%) underwent kidney transplantation, and 7 (3.5%) were excluded because transplantation type was unknown. Age- and sex-adjusted 5-year patient survival posttransplantation was 95.5% (95% CI, 92.4%-98.8%) overall: 97.4% (95% CI, 94.9%-100.0%) for patients with kidney transplantation in contrast to 87.0% (95% CI, 75.8%-99.8%) with combined liver-kidney transplantation. The age- and sex-adjusted risk for death after combined liver-kidney transplantation was 6.7-fold (95% CI, 1.8- to 25.4-fold) greater than after kidney transplantation (P=0.005). Five-year death-censored kidney transplant survival following combined liver-kidney and kidney transplantation was similar (92.1% vs 85.9%; P=0.4). LIMITATIONS: No data for liver disease of kidney therapy recipients. CONCLUSIONS: Combined liver-kidney transplantation in ARPKD is associated with increased mortality compared to kidney transplantation in our large observational study and was not associated with improved 5-year kidney transplant survival. Long-term follow-up of both kidney and liver involvement are needed to better delineate the optimal transplantation strategy.
[Mh] Termos MeSH primário: Transplante de Rim
Cirrose Hepática/etiologia
Cirrose Hepática/cirurgia
Transplante de Fígado
Rim Policístico Autossômico Recessivo/complicações
Insuficiência Renal/etiologia
Insuficiência Renal/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Estudos de Coortes
Feminino
Seres Humanos
Lactente
Cirrose Hepática/mortalidade
Masculino
Rim Policístico Autossômico Recessivo/mortalidade
Sistema de Registros
Insuficiência Renal/mortalidade
Sociedades Médicas
Análise de Sobrevida
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170727
[Lr] Data última revisão:
170727
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160825
[St] Status:MEDLINE



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