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[PMID]:28130634
[Au] Autor:Fuente R; Gil-Peña H; Claramunt-Taberner D; Hernández O; Fernández-Iglesias A; Alonso-Durán L; Rodríguez-Rubio E; Santos F
[Ad] Endereço:Division of Pediatrics, Department of Medicine. Faculty of Medicine, University of Oviedo, Oviedo, Asturias, Spain.
[Ti] Título:X-linked hypophosphatemia and growth.
[So] Source:Rev Endocr Metab Disord;18(1):107-115, 2017 Mar.
[Is] ISSN:1573-2606
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:X-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene. XLH is characterized by hypophosphatemia secondary to renal phosphate wasting, inappropriately low concentrations of 1,25 dihydroxyvitamin D and high circulating levels of fibroblast growth factor 23 (FGF23). Short stature and rachitic osseous lesions are characteristic phenotypic findings of XLH although the severity of these manifestations is highly variable among patients. The degree of growth impairment is not dependent on the magnitude of hypophosphatemia or the extent of legs´ bowing and height is not normalized by chronic administration of phosphate supplements and 1α hydroxyvitamin D derivatives. Treatment with growth hormone accelerates longitudinal growth rate but there is still controversy regarding the potential risk of increasing bone deformities and body disproportion. Treatments aimed at blocking FGF23 action are promising, but information is lacking on the consequences of counteracting FGF23 during the growing period. This review summarizes current knowledge on phosphorus metabolism in XLH, presents updated information on XLH and growth, including the effects of FGF23 on epiphyseal growth plate of the Hyp mouse, an animal model of the disease, and discusses growth hormone and novel FGF23 related therapies.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/metabolismo
Fatores de Crescimento de Fibroblastos/metabolismo
Transtornos do Crescimento/metabolismo
[Mh] Termos MeSH secundário: Animais
Raquitismo Hipofosfatêmico Familiar/complicações
Transtornos do Crescimento/quimioterapia
Transtornos do Crescimento/etiologia
Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (fibroblast growth factor 23); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170128
[St] Status:MEDLINE
[do] DOI:10.1007/s11154-017-9408-1


  2 / 7478 MEDLINE  
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[PMID]:28682036
[Au] Autor:Bellasi A; Mangano M; Galassi A; Cozzolino M
[Ad] Endereço:U.O.C. di Nefrologia, Dialisi, Ospedale Sant'Anna-Como, ASST-Lariana, Como, Italy.
[Ti] Título:[CKD-MBD, cardiovascular involvement and prognosis].
[So] Source:G Ital Nefrol;34(Suppl 69):150-161, 2017 Mar.
[Is] ISSN:1724-5990
[Cp] País de publicação:Italy
[La] Idioma:ita
[Ab] Resumo:Chronic low-grade inflammation is emerging as the pathophysiological mechanism underlying of the several chronic degenerative diseases. Atherosclerosis, inflammation and oxidative stress are some of the issues that arise from the general context of chronic inflammation. In this manuscript we analyzed the role of the immune system, metabolism and inflammation's molecular mediators in order to show an overview about only apparently different problems. Finally, we proposed some possible solutions to improve the survival and quality of life of patient with chronic kidney disease.
[Mh] Termos MeSH primário: Doenças Cardiovasculares/etiologia
Distúrbio Mineral e Ósseo na Doença Renal Crônica/complicações
[Mh] Termos MeSH secundário: Distúrbio Mineral e Ósseo na Doença Renal Crônica/quimioterapia
Distúrbio Mineral e Ósseo na Doença Renal Crônica/metabolismo
Humanos
Fósforo/metabolismo
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
27YLU75U4W (Phosphorus)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170706
[St] Status:MEDLINE


  3 / 7478 MEDLINE  
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[PMID]:28134398
[Au] Autor:Pasquali M; Tartaglione L; Rotondi S
[Ti] Título:[New biomarkers of CKD-MBD].
[Ti] Título:I nuovi biomarcatori della CKD-MBD..
[So] Source:G Ital Nefrol;33(6), 2016 Nov-Dec.
[Is] ISSN:1724-5990
[Cp] País de publicação:Italy
[La] Idioma:ita
[Ab] Resumo:Chronic kidney failure involves abnormalities of mineral metabolism, skeletal and of cardiovascular system (so called CKD - MBD) that have a major impact on the survival of renal patient. Increasingly complex pathophysiological mechanisms have been discovered in recent years with evidence of new molecules involved in the development of CKD - MBD. Besides the classical PTH / Vitamin D axis, the most recent discovery of a new FGF23 / Klotho axis has expanded knowledge on the mechanisms of mineral homeostasis but also on the more complex mechanisms of cellular aging, vascular calcification and cardiac remodeling. The importance of bone as an endocrine organ has become even more evident following the discovery of molecules such as Sclerostin (involved in the regulation of osteoblastic proliferation and differentiation) and Sibling (a family of proteins that regulate both local and systemic mineral metabolism). The ability to characterize as biomarkers of CKD - MBD for these new molecules depends on their eventual ability to express a specific pathophysiological processes, identify patients at risk, highlight the response to a therapeutic treatment and to be easily identifiable and quantifiable on biological fluids. As of today, it seems that we can recognize FGF23 as a biomarker of CKD-MBD, while the remaining molecules as still waiting for a more definite settlement.
[Mh] Termos MeSH primário: Distúrbio Mineral e Ósseo na Doença Renal Crônica/sangue
Distúrbio Mineral e Ósseo na Doença Renal Crônica/urina
[Mh] Termos MeSH secundário: Biomarcadores/sangue
Biomarcadores/urina
Proteínas Morfogenéticas Ósseas/análise
Distúrbio Mineral e Ósseo na Doença Renal Crônica/diagnóstico
Fatores de Crescimento de Fibroblastos/análise
Marcadores Genéticos
Glucuronidase/análise
Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Biomarkers); 0 (Bone Morphogenetic Proteins); 0 (Genetic Markers); 0 (SOST protein, human); 0 (fibroblast growth factor 23); 62031-54-3 (Fibroblast Growth Factors); EC 3.2.1.31 (Glucuronidase); EC 3.2.1.31 (klotho protein)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170130
[St] Status:MEDLINE


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[PMID]:28938491
[Au] Autor:Xiao L; Du E; Homer-Bouthiette C; Hurley MM
[Ad] Endereço:Department of Medicine, University of Connecticut School of Medicine, UConn Health, Farmington, Connecticut, 06030-052.
[Ti] Título:Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice.
[So] Source:Endocrinology;158(10):3629-3646, 2017 Oct 01.
[Is] ISSN:1945-7170
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Transgenic mice harboring high molecular weight fibroblast growth factor (FGF)2 isoforms (HMWTg) in osteoblast lineage cells phenocopy human X-linked hypophosphatemic rickets (XLH) and Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic rickets. Because HMWFGF2 was upregulated in bones of Hyp mice and abnormal FGF receptor (FGFR) signaling is important in XLH, HMWTg mice were used to examine the effect of the FGFR inhibitor NVP-BGJ398, now in clinical trials for cancer therapy, on hypophosphatemic rickets. Short-term treatment with NVP-BGJ398 rescued abnormal FGFR signaling and hypophosphatemia in HMWTg. Long-term treatment with NVP-BGJ398 normalized tail, tibia, and femur length. Four weeks NVP-BGJ398 treatment significantly increased total body bone mineral density (BMD) and bone mineral content (BMC) in HMWTg mice; however, at 8 weeks, total body BMD and BMC was indistinguishable among groups. Micro-computed tomography revealed decreased vertebral bone volume, trabecular number, and increased trabecular spacing, whereas femur trabecular tissue density was increased; however, NVP-BGJ398 rescued defective cortical bone mineralization, increased thickness, reduced porosity, and increased endosteal perimeter and cortical tissue density in HMWTg. NVP-BGJ398 improved femur cancellous bone, cortical bone structure, growth plate, and double labeling in cortical bone and also increased femur trabeculae double labeled surface, mineral apposition rate, bone formation rate, and osteoclast number and surface in HMWTg. The decreased NPT2a protein that is important for renal phosphate excretion was rescued by NVP-BGJ398 treatment. We conclude that NVP-BGJ398 partially rescued hypophosphatemic rickets in HMWTg. However, long-term treatment with NVP-BGJ398 further increased serum FGF23 that could exacerbate the mineralization defect.
[Mh] Termos MeSH primário: Densidade Óssea/efeitos de drogas
Osso e Ossos/efeitos de drogas
Raquitismo Hipofosfatêmico Familiar/genética
Fator 2 de Crescimento de Fibroblastos/genética
Osteoblastos/metabolismo
Compostos de Fenilureia/farmacologia
Pirimidinas/farmacologia
Receptores de Fatores de Crescimento de Fibroblastos/antagonistas & inibidores
[Mh] Termos MeSH secundário: Absorciometria de Fóton
Animais
Western Blotting
Osso e Ossos/diagnóstico por imagem
Osso e Ossos/patologia
Osso Esponjoso/diagnóstico por imagem
Osso Esponjoso/efeitos de drogas
Osso Esponjoso/patologia
Raquitismo Hipofosfatêmico Familiar/metabolismo
Raquitismo Hipofosfatêmico Familiar/patologia
Fêmur/diagnóstico por imagem
Fêmur/efeitos de drogas
Fêmur/patologia
Fatores de Crescimento de Fibroblastos/efeitos de drogas
Fatores de Crescimento de Fibroblastos/metabolismo
Humanos
Masculino
Camundongos
Camundongos Transgênicos
Tamanho do Órgão
Isoformas de Proteínas/genética
Reação em Cadeia da Polimerase em Tempo Real
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Transdução de Sinal/efeitos de drogas
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/efeitos de drogas
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/metabolismo
Coluna Vertebral/diagnóstico por imagem
Coluna Vertebral/efeitos de drogas
Coluna Vertebral/patologia
Microtomografia por Raio-X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (3-(2,6-dichloro-3,5-dimethoxyphenyl)-1-(6-(4-(4-ethylpiperazin-1-yl)-phenylamino)pyrimidin-4-yl)-1-methylurea); 0 (Phenylurea Compounds); 0 (Protein Isoforms); 0 (Pyrimidines); 0 (Receptors, Fibroblast Growth Factor); 0 (Slc34a1 protein, mouse); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIa); 0 (fibroblast growth factor 23); 103107-01-3 (Fibroblast Growth Factor 2); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170922
[St] Status:MEDLINE
[do] DOI:10.1210/en.2016-1617


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[PMID]:28194480
[Au] Autor:Colares Neto GP; Pereira RM; Alvarenga JC; Takayama L; Funari MF; Martin RM
[Ad] Endereço:Osteometabolic Disorders Unit, Endocrinology Division, Hospital das Clínicas da Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155 - PAMB, 8° andar, Bloco 3, São Paulo, SP, 05403-900, Brazil.
[Ti] Título:Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets.
[So] Source:Osteoporos Int;28(5):1685-1692, 2017 May.
[Is] ISSN:1433-2965
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In X-linked hypophosphatemic (XLH) rickets, dual-energy X-ray absorptiometry (DXA) measurements must be analyzed with caution. High-resolution peripheral quantitative computed tomography (HR-pQCT) analysis suggested that XLH primarily affects the cancellous compartment, with the tibia more affected than the radius. Effective treatment of XLH appears to positively affect bone mineralization, mainly in the bone cortex. INTRODUCTION: The purpose of this study is to evaluate bone mineral density (BMD) and microarchitecture in 37 patients (13 children and 24 adults) with XLH confirmed by PHEX mutations from a tertiary center compared to healthy controls. METHODS: Areal BMD (aBMD) was evaluated by DXA, whereas volumetric BMD (vBMD) and microarchitectural parameters were analyzed by HR-pQCT. RESULTS: Adult XLH patients had higher lumbar aBMD (p < 0.01) than the controls. At the radius, the vBMD was similar between XLH patients and controls. At the tibia, XLH patients had lower total vBMD (p = 0.04), likely resulting from decreased trabecular vBMD (p < 0.01), and this difference was observed in the children and adult groups. Analysis based on metabolic status showed that the adult XLH patients with non-compensated disease had lower cortical vBMD at the tibia than the compensated XLH patients (p = 0.03). The microarchitectural differences at the radius and tibia included lower trabecular number (p < 0.01), greater trabecular separation (p < 0.01), and higher trabecular network inhomogeneity (p < 0.01) in XLH patients compared to their controls. At the radius, adults exhibited greater trabecular deficits than were seen in children. CONCLUSIONS: In XLH patients, DXA measurements must be analyzed with caution due to the interference of anatomic and anthropometric factors. HR-pQCT analysis suggested that XLH primarily affects the cancellous compartment, with the tibia more affected than the radius. Effective treatment of XLH appears to positively affect bone mineralization, mainly in the bone cortex.
[Mh] Termos MeSH primário: Densidade Óssea/fisiologia
Raquitismo Hipofosfatêmico Familiar/fisiopatologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Idoso
Criança
Raquitismo Hipofosfatêmico Familiar/diagnóstico por imagem
Raquitismo Hipofosfatêmico Familiar/patologia
Feminino
Humanos
Vértebras Lombares/diagnóstico por imagem
Vértebras Lombares/patologia
Vértebras Lombares/fisiopatologia
Masculino
Meia-Idade
Rádio (Anatomia)/diagnóstico por imagem
Rádio (Anatomia)/patologia
Rádio (Anatomia)/fisiopatologia
Tíbia/diagnóstico por imagem
Tíbia/patologia
Tíbia/fisiopatologia
Tomografia Computadorizada por Raios X/métodos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170214
[St] Status:MEDLINE
[do] DOI:10.1007/s00198-017-3949-8


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[PMID]:28083765
[Au] Autor:Fukagawa M; Inaba M; Yokoyama K; Shigematsu T; Ando R; Miyamoto KI; For Japan CKD-MBD Forum
[Ad] Endereço:Division of Nephrology, Endocrinology and Metabolism, Tokai University School of Medicine, 143 Shimo-Kasuya, Isehara, Kanagawa, 259-1193, Japan. fukagawa@tokai-u.jp.
[Ti] Título:An introduction to CKD-MBD research: restart for the future.
[So] Source:Clin Exp Nephrol;21(Suppl 1):1-3, 2017 Mar.
[Is] ISSN:1437-7799
[Cp] País de publicação:Japan
[La] Idioma:eng
[Mh] Termos MeSH primário: Doenças Ósseas Metabólicas/etiologia
Distúrbio Mineral e Ósseo na Doença Renal Crônica/etiologia
Minerais/metabolismo
Insuficiência Renal Crônica/complicações
Pesquisa
[Mh] Termos MeSH secundário: Doenças Ósseas Metabólicas/quimioterapia
Doenças Ósseas Metabólicas/metabolismo
Distúrbio Mineral e Ósseo na Doença Renal Crônica/quimioterapia
Distúrbio Mineral e Ósseo na Doença Renal Crônica/metabolismo
Previsões
Humanos
Insuficiência Renal Crônica/quimioterapia
Insuficiência Renal Crônica/metabolismo
[Pt] Tipo de publicação:EDITORIAL
[Nm] Nome de substância:
0 (Minerals)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170113
[St] Status:MEDLINE
[do] DOI:10.1007/s10157-016-1372-7


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[PMID]:28062938
[Au] Autor:Fujii H; Joki N
[Ad] Endereço:Division of Nephrology and Kidney Center, Kobe University Graduate School of Medicine, Kobe, Japan.
[Ti] Título:Mineral metabolism and cardiovascular disease in CKD.
[So] Source:Clin Exp Nephrol;21(Suppl 1):53-63, 2017 Mar.
[Is] ISSN:1437-7799
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:The mineral bone disorder of CKD, called Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD), has a major role in the etiology and progression of cardiovascular disease in CKD patients. Since the main emphasis in CKD-MBD is on three categories (bone abnormalities, laboratory abnormalities, and vascular calcifications), we have routinely accepted ectopic cardiovascular calcifications as a central risk factor in the pathophysiology of CKD-MBD for cardiac events. However, recent compelling evidence suggests that some CKD-MBD-specific factors other than vascular calcification might contribute to the onset of cardiovascular disease. Most notable is fibroblast growth factor-23 (FGF23), which is thought to be independently associated with cardiac remodeling. Slow progression of cardiac disorders, such as vascular calcification and cardiac remodeling, characterizes cardiac disease due to CKD-MBD. In contrast, fatal arrhythmia may be induced when QT prolongation occurs with CKD-MBD treatment, such as with lower Ca dialysate or the use of calcimimetics. Sudden onset of fatal cardiac events, such as heart failure and sudden cardiac death, due to fatal arrhythmia would be another distinctive phenomenon of CKD-MBD. This may be defined as CKD-MBD-specific cardiac complex syndrome.
[Mh] Termos MeSH primário: Doenças Cardiovasculares/etiologia
Doenças Cardiovasculares/metabolismo
Minerais/metabolismo
Insuficiência Renal Crônica/complicações
Insuficiência Renal Crônica/metabolismo
[Mh] Termos MeSH secundário: Distúrbio Mineral e Ósseo na Doença Renal Crônica/etiologia
Distúrbio Mineral e Ósseo na Doença Renal Crônica/metabolismo
Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Minerals)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170107
[St] Status:MEDLINE
[do] DOI:10.1007/s10157-016-1363-8


  8 / 7478 MEDLINE  
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[PMID]:28005175
[Au] Autor:Mizobuchi M; Ogata H; Koiwa F; Kinugasa E; Akizawa T
[Ad] Endereço:Division of Nephrology, Department of Medicine, Showa University School of Medicine, Tokyo, Japan.
[Ti] Título:Research on kidney and mineral metabolism in Japan: past, present, and future.
[So] Source:Clin Exp Nephrol;21(Suppl 1):4-8, 2017 Mar.
[Is] ISSN:1437-7799
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:Since the identification of the kidney was the main site for the synthesis of calcitriol (1α, 25-dihydroxycholecalciferol), research on chronic kidney disease (CKD)-associated mineral metabolism disorders and their management has made rapid progress. Various active analogues of calcitriol have clinically become available for treating secondary hyperparathyroidism (SHPT), which is a representative mineral metabolism abnormality in CKD patients. A calcimimetic compound cinacalcet hydrochloride has also been developed for the medical management of SHPT through a different mechanism involving the calcium-sensing receptor. The concept of CKD-mineral and bone disorder (CKD-MBD) was proposed in 2006 to provide a comprehensive understanding of a disorder related to mineral metabolism abnormalities of CKD, based on the fact that these abnormalities are closely associated with cardiovascular disease as well as bone disorders (renal osteodystrophy). There has been a recent surge in the development of phosphate binders for CKD-MBD, focused on an effort to improve mortality. In Japan, high-quality basic and clinical research on CKD-MBD has led to the development of novel therapeutic drugs, such as maxacalcitol, falecalcitriol, and bixalomer. New practice guidelines have been published and are widely adapted in clinical practice.
[Mh] Termos MeSH primário: Distúrbio Mineral e Ósseo na Doença Renal Crônica/história
Rim/metabolismo
Minerais/metabolismo
Insuficiência Renal Crônica/história
[Mh] Termos MeSH secundário: Animais
Distúrbio Mineral e Ósseo na Doença Renal Crônica/quimioterapia
Distúrbio Mineral e Ósseo na Doença Renal Crônica/etiologia
História do Século XX
História do Século XXI
Humanos
Hiperparatireoidismo Secundário
Japão
Hormônio Paratireóideo/metabolismo
Insuficiência Renal Crônica/complicações
Insuficiência Renal Crônica/quimioterapia
Pesquisa
[Pt] Tipo de publicação:HISTORICAL ARTICLE; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Minerals); 0 (Parathyroid Hormone)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161222
[St] Status:MEDLINE
[do] DOI:10.1007/s10157-016-1366-5


  9 / 7478 MEDLINE  
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[PMID]:28025445
[Au] Autor:Nakamura Y; Takagi M; Takeda R; Miyai K; Hasegawa Y
[Ad] Endereço:Division of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo 183-8561, Japan.
[Ti] Título:Hypertension is a characteristic complication of X-linked hypophosphatemia.
[So] Source:Endocr J;64(3):283-289, 2017 Mar 31.
[Is] ISSN:1348-4540
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:X-linked hypophosphatemia (XLH) is a group of rare disorders caused by defective proximal tubular reabsorption of phosphate. Mutations in the PHEX gene are responsible for the majority of cases. There are very few reports of long-term complications of XLH other than skeletal and dental diseases. The aim of this study was to identify the phenotypic presentation of XLH during adulthood including complications other than skeletal and dental diseases. The clinical and biochemical phenotype of 22 adult patients with a PHEX gene mutation were examined retrospectively from their medical records. 6 patients had hypertension. The average age of hypertension onset was 29.0 years. Secondary hyperparathyroidism preceded the development of hypertension in 5 patients. 1 patient developed tertiary hyperparathyroidism. 15 patients had nephrocalcinosis. 2 patients had chronic renal dysfunction. Patients with hypertension had a significantly lower eGFR (p=0.010) compared to patients without hypertension. No significant difference was found in any other parameters. To examine the genotype-phenotype correlation, 10 adult males were chosen for analysis. No significant genotype-phenotype correlation analysis was revealed in any of the complications. However, there was a possibility that the age at nephrocalcinosis onset was younger in the non-missense mutation group than in the missense mutation group (p=0.063). This study corroborated the view that early-onset hypertension could be one of the characteristic complications seen in XLH patients. Considering the limited number of our patients, further study is necessary to address a potential cause of hypertension. XLH patients require careful lifelong treatment.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/fisiopatologia
Hiperparatireoidismo Secundário/etiologia
Hipertensão/etiologia
Nefrocalcinose/etiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idade de Início
Conservadores da Densidade Óssea/uso terapêutico
Criança
Pré-Escolar
Suplementos Nutricionais
Raquitismo Hipofosfatêmico Familiar/dietoterapia
Raquitismo Hipofosfatêmico Familiar/genética
Feminino
Hospitais Pediátricos
Humanos
Hidroxicolecalciferóis/uso terapêutico
Hiperparatireoidismo Secundário/epidemiologia
Hiperparatireoidismo Secundário/prevenção & controle
Hipertensão/epidemiologia
Hipertensão/prevenção & controle
Masculino
Registros Médicos
Mutação
Nefrocalcinose/epidemiologia
Nefrocalcinose/prevenção & controle
Endopeptidase Neutra Reguladora de Fosfato PHEX/genética
Fosfatos/uso terapêutico
Prevalência
Estudos Retrospectivos
Tóquio/epidemiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bone Density Conservation Agents); 0 (Hydroxycholecalciferols); 0 (Phosphates); EC 3.4.24.- (PHEX Phosphate Regulating Neutral Endopeptidase); EC 3.4.24.- (PHEX protein, human); URQ2517572 (alfacalcidol)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161227
[St] Status:MEDLINE
[do] DOI:10.1507/endocrj.EJ16-0199


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[PMID]:28719612
[Au] Autor:Da Silva Martins J; Castro JH; Sainz Rueda NA; Dos Reis LM; Jorgetti V; Affonso Moysés RM; Caramori JT
[Ad] Endereço:Nephrology, Department of Internal Medicine, Faculdade de Medicina Botucatu Univ. Estadual Paulista-UNESP. Botucatu, Brazil.
[Ti] Título:Renal osteodystrophy in the obesity era: Is metabolic syndrome relevant?
[So] Source:PLoS One;12(7):e0180387, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Observational studies have shown a beneficial effect of obesity on bone health; however, most of those studies were not based on bone biopsies. Metabolic syndrome (MetS) could have an effect on bone remodeling. However, there are no data on the effects of MetS in the presence of renal osteodystrophy. OBJECTIVE: The aim of this study was to investigate associations between MetS and renal osteodystrophy using the bone histomorphometric turnover-mineralization-volume (TMV) classification. DESIGN, SETTING, PARTICIPANTS & MEASUREMENTS: This observational cross-sectional study included 55 hemodialysis patients (28 women/27 men) who were evaluated for MetS and bone histomorphometry. Biochemical parameters included calcium, phosphorus, alkaline phosphatase, intact parathyroid hormone (iPTH), 25-hydroxyvitamin D, free serum leptin, fibroblast growth factor 23 (FGF23), intact osteocalcin, sclerostin (Scl), glucose, insulin, and thyroid hormones. Robust models of multivariate linear regressions were used for the statistical analyses. RESULTS: Females had higher iPTH levels (1,143 vs. 358, p = 0.02). Patients with normal bone volume (BV/TV) had a higher prevalence of MetS (73.6% vs. 41.7%, p = 0.02) and higher serum phosphorus, C-terminal FGF23 and insulin levels. The multivariate regression analysis showed that low-density lipoprotein cholesterol (LDL) was positively correlated with bone formation rate (BFR/BS) and negatively associated with mineralization lag time. Bone volume was negatively associated with age but positively associated with MetS. Body mass index (BMI) was not correlated with any of the bone histomorphometric parameters. CONCLUSION: Our results suggest that MetS is not a risk factor for low bone volume in hemodialysis patients. Furthermore, BMI alone was not related to bone volume in this population.
[Mh] Termos MeSH primário: Distúrbio Mineral e Ósseo na Doença Renal Crônica/complicações
Síndrome X Metabólica/complicações
Obesidade/complicações
[Mh] Termos MeSH secundário: Adulto
Idoso
Densidade Óssea
Proteínas Morfogenéticas Ósseas/sangue
Distúrbio Mineral e Ósseo na Doença Renal Crônica/sangue
Distúrbio Mineral e Ósseo na Doença Renal Crônica/patologia
Distúrbio Mineral e Ósseo na Doença Renal Crônica/fisiopatologia
Estudos Transversais
Feminino
Fatores de Crescimento de Fibroblastos/sangue
Marcadores Genéticos
Humanos
Resistência à Insulina
Leptina/sangue
Masculino
Meia-Idade
Osteocalcina/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bone Morphogenetic Proteins); 0 (Genetic Markers); 0 (Leptin); 0 (SOST protein, human); 0 (fibroblast growth factor 23); 104982-03-8 (Osteocalcin); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170927
[Lr] Data última revisão:
170927
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180387



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