Base de dados : MEDLINE
Pesquisa : C12.777.419.815.364 [Categoria DeCS]
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[PMID]:29240373
[Au] Autor:Goldstein B; Goldfarb DS
[Ti] Título:Early Recognition and Management of Rare Kidney Stone Disorders.
[So] Source:Urol Nurs;37(2):81-9, 102, 2017 Mar-Apr.
[Is] ISSN:1053-816X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Kidney stones, especially those that present in childhood/adolescence, may be due to rare inherited disorders such as cystinuria. Early recognition and prompt treatment can help reduce or even prevent the serious long-term complications of these rare stone disorders.
[Mh] Termos MeSH primário: Adenina Fosforribosiltransferase/deficiência
Cistinúria/diagnóstico
Doença de Dent/diagnóstico
Hiperoxalúria Primária/diagnóstico
Cálculos Renais/etiologia
Erros Inatos do Metabolismo/diagnóstico
Doenças Raras
Urolitíase/diagnóstico
[Mh] Termos MeSH secundário: Cistinúria/complicações
Cistinúria/terapia
Doença de Dent/complicações
Doença de Dent/terapia
Diagnóstico Precoce
Intervenção Médica Precoce
Seres Humanos
Hiperoxalúria Primária/complicações
Hiperoxalúria Primária/terapia
Erros Inatos do Metabolismo/complicações
Erros Inatos do Metabolismo/terapia
Urolitíase/complicações
Urolitíase/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.2.7 (Adenine Phosphoribosyltransferase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180123
[Lr] Data última revisão:
180123
[Sb] Subgrupo de revista:N
[Da] Data de entrada para processamento:171215
[St] Status:MEDLINE


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[PMID]:28143656
[Au] Autor:Gabriel SS; Belge H; Gassama A; Debaix H; Luciani A; Fehr T; Devuyst O
[Ad] Endereço:Institute of Physiology, University of Zürich, Zürich, Switzerland; Division of Nephrology, University Hospital Zürich, Zürich, Switzerland.
[Ti] Título:Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease.
[So] Source:Kidney Int;91(4):842-855, 2017 Apr.
[Is] ISSN:1523-1755
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Dent disease is a rare X-linked tubulopathy caused by mutations in the endosomal chloride-proton exchanger (ClC-5) resulting in defective receptor-mediated endocytosis and severe proximal tubule dysfunction. Bone marrow transplantation has recently been shown to preserve kidney function in cystinosis, a lysosomal storage disease causing proximal tubule dysfunction. Here we test the effects of bone marrow transplantation in Clcn5 mice, a faithful model for Dent disease. Transplantation of wild-type bone marrow in Clcn5 mice significantly improved proximal tubule dysfunction, with decreased low-molecular-weight proteinuria, glycosuria, calciuria, and polyuria four months after transplantation, compared to Clcn5 mice transplanted with ClC-5 knockout bone marrow. Bone marrow-derived cells engrafted in the interstitium, surrounding proximal tubule cells, which showed a rescue of the apical expression of ClC-5 and megalin receptors. The improvement of proximal tubule dysfunction correlated with Clcn5 gene expression in kidneys of mice transplanted with wild-type bone marrow cells. Coculture of Clcn5 proximal tubule cells with bone marrow-derived cells confirmed rescue of ClC-5 and megalin, resulting in improved endocytosis. Nanotubular extensions between the engrafted bone marrow-derived cells and proximal tubule cells were observed in vivo and in vitro. No rescue was found when the formation of the tunneling nanotubes was prevented by actin depolymerization or when cells were physically separated by transwell inserts. Thus, bone marrow transplantation may rescue the epithelial phenotype due to an inherited endosomal defect. Direct contacts between bone marrow-derived cells and diseased tubular cells play a key role in the rescue mechanism.
[Mh] Termos MeSH primário: Transplante de Medula Óssea
Canais de Cloreto/deficiência
Doença de Dent/cirurgia
Túbulos Renais Proximais/fisiopatologia
[Mh] Termos MeSH secundário: Animais
Comunicação Celular
Células Cultivadas
Canais de Cloreto/genética
Técnicas de Cocultura
Doença de Dent/genética
Doença de Dent/metabolismo
Doença de Dent/fisiopatologia
Modelos Animais de Doenças
Endocitose
Predisposição Genética para Doença
Glicosúria/genética
Glicosúria/metabolismo
Glicosúria/fisiopatologia
Glicosúria/prevenção & controle
Hipercalciúria/genética
Hipercalciúria/metabolismo
Hipercalciúria/fisiopatologia
Hipercalciúria/prevenção & controle
Túbulos Renais Proximais/metabolismo
Túbulos Renais Proximais/patologia
Proteína-2 Relacionada a Receptor de Lipoproteína de Baixa Densidade/metabolismo
Masculino
Camundongos Endogâmicos C57BL
Camundongos Knockout
Fenótipo
Poliúria/genética
Poliúria/metabolismo
Poliúria/fisiopatologia
Poliúria/prevenção & controle
Proteinúria/genética
Proteinúria/metabolismo
Proteinúria/fisiopatologia
Proteinúria/prevenção & controle
Recuperação de Função Fisiológica
Quimeras de Transplante
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CLC-5 chloride channel); 0 (Chloride Channels); 0 (Low Density Lipoprotein Receptor-Related Protein-2); 0 (Lrp2 protein, mouse)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170202
[St] Status:MEDLINE


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[PMID]:27889724
[Au] Autor:Bhardwaj S; Thergaonkar R; Sinha A; Hari P; Hi C; Bagga A
[Ad] Endereço:Department of Pediatrics, AIIMS, New Delhi, India; and *Department of Pediatrics, Research Coordination Center for Rare Diseases, and Kidney Research Institute, Seoul National University College of Medicine, Seoul, Korea. Correspondence to: Prof Arvind Bagga, Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, India. arvindbagga@hotmail.com.
[Ti] Título:Phenotype of Dent Disease in a Cohort of Indian Children.
[So] Source:Indian Pediatr;53(11):977-982, 2016 Nov 15.
[Is] ISSN:0974-7559
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To describe the clinical and genotypic features of Dent disease in children diagnosed at our center over a period of 10 years. DESIGN: Case series. SETTING: Pediatric Nephrology Clinic at a referral center in Northern India. METHODS: The medical records of patients with Dent disease diagnosed and followed up at this hospital from June 2005 to April 2015 were reviewed. The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, hypophosphatemia or renal insufficiency, with or without mutation in CLCN5 or OCRL1 genes. RESULTS: The phenotype in 18 patients diagnosed with Dent disease during this period was characterized by early age at onset (median 1.8 y), and polyuria, polydipsia, salt craving, hypophosphatemic rickets and night blindness. Rickets was associated with severe deformities, fractures or loss of ambulation in six patients. Nephrocalcinosis was present in three patients, while none had nephrolithiasis. Generalized aminoaciduria was seen in 13 patients, two had glucosuria alone, and one had features of Fanconi syndrome. Over a median follow up of 2.7 years, one patient developed renal failure. Genetic testing (n=15) revealed 5 missense mutations and 3 nonsense mutations in CLCN5 in 13 patients. Five of these variations (p.Met504Lys, p.Trp58Cys, p.Leu729X, p.Glu527Gln and p.Gly57Arg) have not been reported outside the Indian subcontinent. CONCLUSION: Our findings suggest a severe phenotype in a cohort of Indian patients with Dent disease.
[Mh] Termos MeSH primário: Doença de Dent
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Canais de Cloreto/genética
Estudos de Coortes
Doença de Dent/diagnóstico
Doença de Dent/genética
Doença de Dent/fisiopatologia
Seres Humanos
Lactente
Mutação
Cegueira Noturna
Fenótipo
Insuficiência Renal
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CLC-5 chloride channel); 0 (Chloride Channels)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161128
[St] Status:MEDLINE


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[PMID]:27647256
[Au] Autor:Comper WD; Russo LM; Vuchkova J
[Ad] Endereço:SalAqua Diagnostics, New York and Kantum Diagnostics, NH, United States. Electronic address: wcomper@hotmail.com.
[Ti] Título:Are filtered plasma proteins processed in the same way by the kidney?
[So] Source:J Theor Biol;410:18-24, 2016 Dec 07.
[Is] ISSN:1095-8541
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In order to understand the mechanism of albuminuria we have explored how other plasma proteins are processed by the kidney as compared to inert molecules like Ficolls. When fractional clearances are plotted versus protein radius there is a remarkable parallelism between protein (molecular weight range 30-150kDa) clearance in healthy controls, in Dent's disease, in nephrotic states and the clearance of Ficolls. Although there are significant differences in the levels of fractional clearances in these states. Dent's disease results in a 2-fold increase in the fractional clearance of proteins as compared to healthy controls whereas in nephrotic states there is a further 3-fold increase in fractional clearance. Previous thinking that albumin uptake was controlled primarily by the megalin/cubilin receptor does not explain the albumin urinary excretion data and is therefore an incorrect concept. Protein clearance in nephrotic states approach the fractional clearance of inert Ficolls for a given radius. It therefore appears that there are two pathways processing these proteins. A low capacity pathway associated with megalin/cubilin that degrades filtered protein (that is inhibited in Dent's disease) and a high capacity pathway that retrieves the filtered protein and returns it to the blood supply (without retrieval nephrotic protein excretion will occur and this will account for hypoproteinemia). On the other hand low molecular weight proteins (<20kDa) are processed entirely differently by the kidney. They are not retrieved but are comprehensively degraded in the kidney with the degradation products predominantly returned to the blood supply.
[Mh] Termos MeSH primário: Albuminúria/metabolismo
Proteínas Sanguíneas/metabolismo
Doença de Dent/metabolismo
Rim/metabolismo
[Mh] Termos MeSH secundário: Animais
Seres Humanos
Peso Molecular
Ratos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Blood Proteins)
[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:160921
[St] Status:MEDLINE


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[PMID]:27324082
[Au] Autor:Kubo K; Aizawa T; Watanabe S; Tsugawa K; Tsuruga K; Ito E; Joh K; Tanaka H
[Ad] Endereço:Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
[Ti] Título:Does Dent disease remain an underrecognized cause for young boys with focal glomerulosclerosis?
[So] Source:Pediatr Int;58(8):747-9, 2016 Aug.
[Is] ISSN:1442-200X
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:Focal glomerulosclerosis (FGS) is a histologic entity that causes significant proteinuria in children. Although its etiology varies, recent reports indicated that some young male patients with FGS had underlying Dent disease. We describe the case of a 14-year-old Japanese boy who presented with persistent non-nephrotic range proteinuria, hematuria, and renal insufficiency. The patient was initially diagnosed as having FGS associated with scattered tubulointerstitial fibrosis. Although he had neither nephrocalcinosis nor family history of renal disease including urolithiasis, increased excretion of urinary ß2 microglobulin was noted. Genetic analysis for Dent disease indicated a mutation (c.726 + 1G > A) in Chloride Channel, Voltage-Sensitive 5 (CLCN5). Given a recent hypothesis that Dent disease may be underrecognized in children with FGS, a careful diagnostic evaluation for possible underlying Dent disease should be considered in young boys who present with persistent albuminuria associated with high-grade low-molecular-weight proteinuria.
[Mh] Termos MeSH primário: Doença de Dent/complicações
Erros de Diagnóstico
Glomerulosclerose Segmentar e Focal/etiologia
Glomérulos Renais/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adolescente
Biópsia por Agulha
Doença de Dent/diagnóstico
Diagnóstico Diferencial
Glomerulosclerose Segmentar e Focal/diagnóstico
Seres Humanos
Imagem por Ressonância Magnética
Masculino
[Pt] Tipo de publicação:CASE REPORTS
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170404
[Lr] Data última revisão:
170404
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160622
[St] Status:MEDLINE
[do] DOI:10.1111/ped.12944


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[PMID]:27174143
[Au] Autor:Li F; Yue Z; Xu T; Chen M; Zhong L; Liu T; Jing X; Deng J; Hu B; Liu Y; Wang H; Lai KN; Sun L; Liu J; Maxwell PH; Wang Y
[Ad] Endereço:Department of Medical Genetics, Genome Research Center, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong Province, China.
[Ti] Título:Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.
[So] Source:J Pediatr;174:204-210.e1, 2016 Jul.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To characterize the phenotypes of Dent disease in Chinese children and their heterozygous mothers and to establish genetic diagnoses. STUDY DESIGN: Using a modified protocol, we screened 1288 individuals with proteinuria. A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1. We also analyzed 16 available patients' mothers and examined their pregnancy records. RESULTS: We detected 14 loss of function/deleterious mutations of CLCN5 in 15 boys and 2 mutations of OCRL1 in 4 boys. Of the patients, 16 of 19 had been wrongly diagnosed with other diseases and 11 of 19 had incorrect or unnecessary treatment. None of the patients, but 6 of 14 mothers, had nephrocalcinosis or nephrolithiasis at diagnosis. Of the patients, 8 of 14 with Dent disease 1 were large for gestational age (>90th percentile); 8 of 15 (53.3%) had rickets. We also present predicted structural changes for 4 mutant proteins. CONCLUSIONS: Pediatric Dent disease often is misdiagnosed; genetic testing achieves a correct diagnosis. Nephrocalcinosis or nephrolithiasis may not be sensitive diagnostic criteria. We identified 10 novel mutations in CLCN5 and OCRL1. The possibility that altered CLCN5 function could affect fetal growth and a possible link between a high rate of rickets and low calcium intake are discussed.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Canais de Cloreto/genética
Doença de Dent/diagnóstico
Doença de Dent/genética
Mutação/genética
Monoéster Fosfórico Hidrolases/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
China
Feminino
Desenvolvimento Fetal/genética
Heterozigoto
Seres Humanos
Masculino
Mães
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CLC-5 chloride channel); 0 (Chloride Channels); EC 3.1.3.2 (Phosphoric Monoester Hydrolases); EC 3.1.3.36 (OCRL protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170612
[Lr] Data última revisão:
170612
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160514
[St] Status:MEDLINE


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[PMID]:27117801
[Au] Autor:Tang X; Brown MR; Cogal AG; Gauvin D; Harris PC; Lieske JC; Romero MF; Chang MH
[Ad] Endereço:O'Brien Urology Research Center, Mayo Clinic College of Medicine, Rochester, Minnesota Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, Minnesota Division of Nephrology, Shanghai Changzheng Hospital Second Military Medical University, Shanghai, China.
[Ti] Título:Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients.
[So] Source:Physiol Rep;4(8), 2016 Apr.
[Is] ISSN:2051-817X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Dent disease type 1, an X-linked inherited kidney disease is caused by mutations in electrogenic Cl(-)/H(+) exchanger, ClC-5. We functionally studied the most frequent mutation (S244L) and two mutations recently identified in RKSC patients, Q629X and R345W. We also studied T657S, which has a high minor-allele frequency (0.23%) in the African-American population, was published previously as pathogenic to cause Dent disease. The transport properties of CLC-5 were electrophysiologically characterized. WT and ClC-5 mutant currents were inhibited by pH 5.5, but not affected by an alkaline extracellular solution (pH 8.5). The T657S and R345W mutations showed the same anion selectivity sequence as WT ClC-5 (SCN(-)>NO3(-)≈Cl(-)>Br(-)>I(-)). However, the S244L and Q629X mutations abolished this anion conductance sequence. Cell surface CLC-5 expression was quantified using extracellular HA-tagged CLC-5 and a chemiluminescent immunoassay. Cellular localization of eGFP-tagged CLC-5 proteins was also examined in HEK293 cells with organelle-specific fluorescent probes. Functional defects of R345W and Q629X mutations were caused by the trafficking of the protein to the plasma membrane since proteins were mostly retained in the endoplasmic reticulum, and mutations showed positive correlations between surface expression and transport function. In contrast, although the S244L transport function was significantly lower than WT, cell surface, early endosome, and endoplasmic reticulum expression was equal to that of WT CLC-5. Function and trafficking of T657S was equivalent to the WT CLC-5 suggesting this is a benign variant rather than pathogenic. These studies demonstrate the useful information that can be gained by detailed functional studies of mutations predicted to be pathogenic.
[Mh] Termos MeSH primário: Canais de Cloreto/genética
Canais de Cloreto/metabolismo
Doença de Dent/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Células HEK293
Seres Humanos
Medições Luminescentes
Dados de Sequência Molecular
Mutação
Técnicas de Patch-Clamp
Transporte Proteico/genética
Sistema de Registros
Transfecção
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (CLC-5 chloride channel); 0 (Chloride Channels)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:170414
[Lr] Data última revisão:
170414
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160428
[St] Status:MEDLINE


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[PMID]:27044412
[Au] Autor:Satoh N; Yamada H; Yamazaki O; Suzuki M; Nakamura M; Suzuki A; Ashida A; Yamamoto D; Kaku Y; Sekine T; Seki G; Horita S
[Ad] Endereço:Department of Internal Medicine, Faculty of Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.
[Ti] Título:A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation.
[So] Source:Pflugers Arch;468(7):1183-96, 2016 Jul.
[Is] ISSN:1432-2013
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Dent's disease is characterized by defective endocytosis in renal proximal tubules (PTs) and caused by mutations in the 2Cl(-)/H(+) exchanger, CLC-5. However, the pathological role of endosomal acidification in endocytosis has recently come into question. To clarify the mechanism of pathogenesis for Dent's disease, we examined the effects of a novel gating glutamate mutation, E211Q, on CLC-5 functions and endosomal acidification. In Xenopus oocytes, wild-type (WT) CLC-5 showed outward-rectifying currents that were inhibited by extracellular acidosis, but E211Q and an artificial pure Cl(-) channel mutant, E211A, showed linear currents that were insensitive to extracellular acidosis. Moreover, depolarizing pulse trains induced a robust reduction in the surface pH of oocytes expressing WT CLC-5 but not E211Q or E211A, indicating that the E211Q mutant functions as a pure Cl(-) channel similar to E211A. In HEK293 cells, E211A and E211Q stimulated endosomal acidification and hypotonicity-inducible vacuolar-type H(+)-ATPase (V-ATPase) activation at the plasma membrane. However, the stimulatory effects of these mutants were reduced compared with WT CLC-5. Furthermore, gene silencing experiments confirmed the functional coupling between V-ATPase and CLC-5 at the plasma membrane of isolated mouse PTs. These results reveal for the first time that the conversion of CLC-5 from a 2Cl(-)/H(+) exchanger into a Cl(-) channel induces Dent's disease in humans. In addition, defective endosomal acidification as a result of insufficient V-ATPase activation may still be important in the pathogenesis of Dent's disease.
[Mh] Termos MeSH primário: Canais de Cloreto/genética
Canais de Cloreto/metabolismo
Doença de Dent/metabolismo
Mutação/genética
ATPases Vacuolares Próton-Translocadoras/metabolismo
[Mh] Termos MeSH secundário: Animais
Linhagem Celular
Membrana Celular/metabolismo
Criança
Doença de Dent/genética
Endocitose/fisiologia
Feminino
Células HEK293
Homeostase/fisiologia
Seres Humanos
Transporte de Íons/fisiologia
Túbulos Renais Proximais/metabolismo
Masculino
Oócitos/metabolismo
Xenopus laevis/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CLC-5 chloride channel); 0 (Chloride Channels); EC 3.6.1.- (Vacuolar Proton-Translocating ATPases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171005
[Lr] Data última revisão:
171005
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160406
[St] Status:MEDLINE
[do] DOI:10.1007/s00424-016-1808-7


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[PMID]:26928805
[Au] Autor:Roksnoer LC; Heijnen BF; Nakano D; Peti-Peterdi J; Walsh SB; Garrelds IM; van Gool JM; Zietse R; Struijker-Boudier HA; Hoorn EJ; Danser AH
[Ad] Endereço:From the Division of Pharmacology and Vascular Medicine (L.C.W.R, I.M.G., J.M.G.v.G., A.H.J.D.), Division of Nephrology and Transplantation (L.C.W.R., R.Z., E.J.H.), Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands; Department of Pharmacology, Cardiovascular Research Institute
[Ti] Título:On the Origin of Urinary Renin: A Translational Approach.
[So] Source:Hypertension;67(5):927-33, 2016 May.
[Is] ISSN:1524-4563
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Urinary angiotensinogen excretion parallels albumin excretion, which is not the case for renin, while renin's precursor, prorenin, is undetectable in urine. We hypothesized that renin and prorenin, given their smaller size, are filtered through the glomerulus in larger amounts than albumin and angiotensinogen, and that differences in excretion rate are because of a difference in reabsorption in the proximal tubule. To address this, we determined the glomerular sieving coefficient of renin and prorenin and measured urinary renin/prorenin 1) after inducing prorenin in Cyp1a1-Ren2 rats and 2) in patients with Dent disease or Lowe syndrome, disorders characterized by defective proximal tubular reabsorption. Glomerular sieving coefficients followed molecular size (renin>prorenin>albumin). The induction of prorenin in rats resulted in a >300-fold increase in plasma prorenin and doubling of blood pressure but did not lead to the appearance of prorenin in urine. It did cause parallel rises in urinary renin and albumin, which losartan but not hydralazine prevented. Defective proximal tubular reabsorption increased urinary renin and albumin 20- to 40-fold, and allowed prorenin detection in urine, at ≈50% of its levels in plasma. Taken together, these data indicate that circulating renin and prorenin are filtered into urine in larger amounts than albumin. All 3 proteins are subsequently reabsorbed in the proximal tubule. For prorenin, such reabsorption is ≈100%. Minimal variation in tubular reabsorption (in the order of a few %) is sufficient to explain why urinary renin and albumin excretion do not correlate. Urinary renin does not reflect prorenin that is converted to renin in tubular fluid.
[Mh] Termos MeSH primário: Albuminas/metabolismo
Angiotensinogênio/metabolismo
Doença de Dent/urina
Síndrome Oculocerebrorrenal/urina
Renina/metabolismo
Pesquisa Médica Translacional/métodos
[Mh] Termos MeSH secundário: Animais
Doença de Dent/fisiopatologia
Modelos Animais de Doenças
Taxa de Filtração Glomerular
Seres Humanos
Glomérulos Renais/metabolismo
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Meia-Idade
Síndrome Oculocerebrorrenal/fisiopatologia
Ratos
Sistema Renina-Angiotensina/fisiologia
Amostragem
Urinálise
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Albumins); 11002-13-4 (Angiotensinogen); EC 3.4.23.15 (Renin)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:170501
[Lr] Data última revisão:
170501
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160302
[St] Status:MEDLINE
[do] DOI:10.1161/HYPERTENSIONAHA.115.07012


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[PMID]:26813509
[Au] Autor:Sekine T
[Ad] Endereço:Department of Pediatrics, Toho University Ohashi Hospital, Japan.
[Ti] Título:[Renal hypophosphatemia:pathophysiology and treatment].
[So] Source:Clin Calcium;26(2):284-94, 2016 Feb.
[Is] ISSN:0917-5857
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Serum level of phosphate is regulated by the kidney, especially proximal tubule. The transcellular transport of phosphate in the proximal tubule is mediated via Na dependent transporters, i.e., NPT2a and NPT2b at the luminal membrane, and unknown channel at the basolateral side. The transport of phosphate via NPT2a and NPT2b is further regulated by factors, such as PTH, FGF23, and 1,25(OH)(2)D. Several hereditary diseases that cause hypophoshatemia specically are known. In addition, dysfunction of proximal tubule may develop Fanconi syndrome, which also causes hypherphosphaturia. In this section, I describe the renal mechanisms of phosphate handling and the causes of hypophosphatemia along with its treatment.
[Mh] Termos MeSH primário: Hipofosfatemia/etiologia
Hipofosfatemia/metabolismo
Túbulos Renais Proximais/metabolismo
Fosfatos/metabolismo
[Mh] Termos MeSH secundário: Administração Oral
Calcitriol/fisiologia
Canais de Cloreto
Doença de Dent/etiologia
Doença de Dent/genética
Doença de Dent/metabolismo
Síndrome de Fanconi/etiologia
Síndrome de Fanconi/metabolismo
Fatores de Crescimento de Fibroblastos/fisiologia
Seres Humanos
Hipofosfatemia/terapia
Doenças Mitocondriais
Síndrome Oculocerebrorrenal
Hormônio Paratireóideo/fisiologia
Monoéster Fosfórico Hidrolases
Compostos de Fósforo/administração & dosagem
Compostos de Fósforo/uso terapêutico
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/fisiologia
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/fisiologia
Vitamina D/administração & dosagem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (CLC-5 chloride channel); 0 (Chloride Channels); 0 (Parathyroid Hormone); 0 (Phosphates); 0 (Phosphorus Compounds); 0 (SLC34A1 protein, human); 0 (SLC34A3 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIa); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIc); 0 (fibroblast growth factor 23); 1406-16-2 (Vitamin D); 62031-54-3 (Fibroblast Growth Factors); EC 3.1.3.2 (Phosphoric Monoester Hydrolases); EC 3.1.3.36 (OCRL protein, human); FXC9231JVH (Calcitriol)
[Em] Mês de entrada:1604
[Cu] Atualização por classe:161126
[Lr] Data última revisão:
161126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160128
[St] Status:MEDLINE
[do] DOI:CliCa1602284294



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