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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
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[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
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[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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