Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement

Claverie-Martı́n, Félix; Vargas‐Poussou, Rosa; Müller, Dominik; García‐Nieto, Victor

doi:10.1038/ejhg.2014.176

Cited by 12 publications

(9 citation statements)

References 16 publications

(12 reference statements)

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“…Genetic evaluation of relatives is also important for the selection of potential family donors for kidney transplantation, and the search for potential donors can be started as soon as FHHNC diagnosis is made. Also, the definition of the mutation on the CLDN19 gene increases the awareness for the continuous ophthalmological evaluation [16].…”

Section: Discussionmentioning

confidence: 99%

Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation

Vianna

Simor

Senna

et al. 2019

CNCS

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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder caused by mutations in genes that encode renal tight junction proteins claudin-16 or claudin-19, which are responsible for magnesium and calcium paracellular reabsorption in the thick ascending limb of Henle’s loop. Progressive renal failure is frequently present, and most of the patients require renal replacement therapy still during adolescence. In this case report, we describe a new homozygous missense mutation on CLDN16 gene (c.592G>C, Gly198Arg) in a 24-year-old male patient diagnosed with FHHNC after clinical investigation due to incidental detection of altered routine laboratorial tests, who was firstly misdiagnosed with primary hyperparathyroidism. In addition, it illustrates an atypical presentation of this disease, with late onset of chronic kidney disease, improving the phenotype-genotype knowledge of patients with FHHNC.

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Section: Discussionmentioning

confidence: 99%

Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation

Vianna

Simor

Senna

et al. 2019

CNCS

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“…To date, >50 different CLDN16 and 17 different CLDN19 pathogenic mutations and only about 131 affected families (178 patients) subjected to molecular-genetic testing have been reported in the literature. [17] Only two cases are reported from India before this, one from southern India and other from northern India, but none were confirmed with genetic testing. [1819]…”

Section: Discussion and Review Of Literaturementioning

confidence: 99%

Familial hypomagnesemia, hypercalciuria and nephrocalcinosis with novel mutation

Saravanan

Doshi

2019

Indian J Nephrol

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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in genes coding for tight junction proteins claudin-16 and claudin-19. It is characterized by renal wasting of magnesium and calcium associated with the development of nephrocalcinosis and renal stones by early childhood. Most of them progress to end-stage renal failure by the second or third decade. Here, we report two siblings with FHHNC, who presented with nephrocalcinosis without any extrarenal manifestations, one of them having novel homozygous nonsense mutation in claudin-16 (CLDN16) (c.620G>A, p. Trp207Ter). Both were treated with dietary changes, hydrochlorothiazide, potassium citrate, and magnesium supplementation. FHHNC is a rare cause of nephrocalcinosis, and we believe that it should be considered in the presence of nephrocalcinosis with hypercalciuria and hypomagnesemia.

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“…The most frequent CLDN16 disease-causing variant, c.453G>T (p.L151F) is found in almost 50% of the German and Eastern European patients described so far [45,52,100].…”

Section: Variants/pathogenesismentioning

confidence: 99%

Claudins in Renal Physiology and Pathology

Prot-Bertoye

Houillier

2020

Genes

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Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial cells. In the mammalian kidney, every tubular segment express a specific set of claudins that give to that segment unique properties regarding permeability and selectivity of the paracellular pathway. So far, 3 claudins (10b, 16 and 19) have been causally traced to rare human syndromes: variants of CLDN10b cause HELIX syndrome and variants of CLDN16 or CLDN19 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The review summarizes our current knowledge on the physiology of mammalian tight junctions and paracellular ion transport, as well as on the role of the 3 above-mentioned claudins in health and disease. Claudin 14, although not having been causally linked to any rare renal disease, is also considered, because available evidence suggests that it may interact with claudin 16. Some single-nucleotide polymorphisms of CLDN14 are associated with urinary calcium excretion and/or kidney stones. For each claudin considered, the pattern of expression, the function and the human syndrome caused by pathogenic variants are described.

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Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement

Cited by 12 publications

References 16 publications

Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation

Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation

Familial hypomagnesemia, hypercalciuria and nephrocalcinosis with novel mutation

Claudins in Renal Physiology and Pathology

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