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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2013  |  Volume : 24  |  Issue : 2  |  Page : 338-344
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): Report of three cases with a novel mutation in CLDN19 gene

1 Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates
2 University Children's Hospital, Department of General Pediatrics, Munster, Germany
3 Department of Surgery, Division of Ophthalmology, Tawam Hospital, Al Ain, United Arab Emirates
4 Department of Pediatrics, Faculty of Medicine and Health Sciences, Sheikh Khalifa Medical City, United Arab Emirates
5 Department of Pediatrics, Sheikh Khalifa Medical City, United Arab Emirates

Correspondence Address:
Amar Al-Shibli
Consultant Pediatrician,Tawam Hospital, P.O. Box 15258, Al-Ain
United Arab Emirates
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DOI: 10.4103/1319-2442.109601

PMID: 23538362

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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in the genes coding for tight junction proteins Claudin-16 and Claudin-19. Affected individuals usually develop nephrocalcinosis and progressive renal failure; some of them may have ophthalmologic involvement as well. Phenotypic description of three affected individuals from the same Middle Eastern kindred (two sisters and their cousin) is presented. This includes both clinical and laboratory findings upon initial presentation and subsequent follow-up. Molecular analysis of the CLDN19 gene was performed on the three cases and one set of parents. A novel homozygous missense mutation in CLDN19 (c.241C>T, p.Arg81Cys) was detected in all three affected children. The parents were heterozygous. Clinical and laboratory data in the three children with renal and ocular manifestations of FHHNC are described. Genetic analysis revealed a novel mutation in the CLDN19 gene. FHHNC is a rare cause of nephrocalcinosis, and we believe that it should be considered in the presence of nephrocalcinosis with hypercalcuria and hypermagnesuria.

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