A novel mutation c.2010delG of CLCN5 gene associated with Dent disease-1 in an 11-year-old male with nephrolithiasis and nephrocalcinosis
| Autor: | B. Kulu, O. Sancakli, O. Sakallioglu |
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| Jazyk: | ruština |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Rossijskij Vestnik Perinatologii i Pediatrii, Vol 63, Iss 2, Pp 70-72 (2018) |
| Druh dokumentu: | article |
| ISSN: | 1027-4065 2500-2228 |
| DOI: | 10.21508/1027-4065-2018-63-2-70-72 |
| Popis: | RETRACTEDDent’s disease-1 (CLCN5 gene) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis with c.2010delG (or p.Asp671fs) mutation in CLCN5 gene which had not previously been reported in the Dent’s disease-1. |
| Databáze: | Directory of Open Access Journals |
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