Browsing by Author "Kulu, B."

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    A novel mutation c.2010delG of CLCN5 gene associated with Dent disease-1 in an 11-year-old male with nephrolithiasis and nephrocalcinosis
    (2018) Kulu, B.; Sancakli, O.; Sakallioglu, O.
    Dent'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. © 2018 National Academy of Pediatric Science and Innovation. All rights reserved.
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    A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis
    (2018) Sancakli, O.; Kulu, B.; Sakallioglu, O.; 0000-0003-2489-4021; 29756720; AAD-5613-2021
    Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to end-stage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent’s disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis caused by a new mutation at CLCN5 gene. © 2018 Sociedad Argentina de Pediatria. All rights reserved.