A novel CLDN16 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis: a case report and literature review

  • 林娇,冯春月,毛建华
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  • Department of Nephrology, National Clinical Research Center For Child Health, The Children’s Hospital, Zhejiang University School of Medicine, Hangzhou 310052, Zhejiang, China

Online published: 2020-08-11

Abstract

Objective Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive genetic disease caused by CLDN16 or CLDN19 gene mutation. This paper is aimed to discuss the clinical characteristics and disease—causing mutations in FHHNC. Methods Clinical data of a patient with FHHNC was retrospectively analyzed. Results A two months old patient with hypomagnesemia and nephrocalcinosis in bilateral kidneys was admitted. The child had low blood magnesium and high urinary calcium; renal ultrasound indicated enhanced renal medullary echo, with repeated positive results of the urine cultures of Escherichia coli. Gene sequencing showed two heterozygous variants c.324+1G>C, c.317C>T in the CLDN16 gene (p.Ser106Phe). It was clinically improved after being treated orally with anti-infection and 25% magnesium sulfate, potassium magnesium aspartate, and 10% sodium citrate. Conclusion FHHNC is a rare disease with poor prognosis. At present, there is no special treatment except transplantation. Gene testing is helpful for early diagnosis of FHHNC.

Cite this article

林娇,冯春月,毛建华 . A novel CLDN16 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis: a case report and literature review[J]. Journal of Clinical Pediatrics, 2020 , 38(8) : 591 . DOI: 10.3969/j.issn.1000-3606.2020.08.008

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