Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but di
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations Hilary H. Seeley, Lindsey A. Loomba-Albrecht, Mato Nagel, Lavjay Butani, Andrew A. Bremer Sacramento, California, USA
Methods: The medical records of three siblings with FHHNC (one girl and two boys, aged 6 to 12 years) were reviewed and the clinical manifestations and treatment of their disease were described. Results: Despite varying phenotypes, each sibling had the same genetic lesion—a novel homozygous mutation in CLDN16 (c.211A>G, M71V). Conclusion: Although FHHNC is a rare disorder, this report is significant for the following reasons: (i) it describes a novel CLDN16 mutation causing FHHNC, adding to the literature of FHHNC-causing CLDN16 mutations; (ii) it suggests that genes other than CLDN16 or epigenetic factors are involved in the clinical spectrum of FHHNC; and (iii) it reinforces the variability of disease manifestation and genotype-phenotype correlations.
Introduction
F
amilial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive inherited syndrome resulting from mutations in the CLDN16 and/or CLDN19 genes that encode claudin-16 and claudin-19, respectively. [1] Although the typical clinical manifestations include renal wasting of magnesium and calcium, leading to nephrocalcinosis and hypomagnesemia, the varied clinical spectra associated with each of these gene mutations are still being actively defined. We report three siblings with FHHNC due to a novel CLDN16 mutation. Their differing clinical courses highlight the variability of disease manifestations, even among patients with the same genetic mutation. Although rare, FHHNC should be included in the differential diagnosis of any patient with nonspecific constitutional symptoms found to have hypomagnesemia and/or nephrocalcinosis in the setting of renal calcium/magnesium wasting.
World J Pediatr 2012;8(2):177-180 Key words: claudin-16; hypomagnesemia; hypercalciuria; nephrocalcinosis; paracellin-1
Author Affiliations: Department of Pediatrics, University of California, San Francisco, California 94143, USA (Seeley HH); Department of Pediatrics, University of California, Davis, California 95616, USA (Loomba-Albrecht LA, Butani L); Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics, Weisswasser, Germany (Nagel M); Department of Pediatrics, Vanderbilt University, Nashville, Tennessee 37232, USA (Bremer AA) Corresponding Author: Andrew A. Bremer, MD, PhD, Division of Endocrinology, Vanderbilt University School of Medicine, 11136 Doctors' Office Tower, 2200 Children's Way, Nashville, TN 37232-9170, USA (Tel: 615-936-1874; Fax: 615-875-7633; Email: [email protected]) doi: 10.1007/s12519-011-0295-3 ©Children's Hospital, Zhejiang University School of Medicine, China and Springer-Verlag Berlin Heidelberg 2011. All rights reserved.
World J Pediatr, Vol 8 No 2 . May 15, 2012 . www.wjpch.com
Case report
Case 1 (index case)
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