Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia.

[familial hypocalciuric hypercalcemia]

Familial hypocalciuric hypercalcemia (FHH ) results from a mutation of the calcium sensing receptor (CASR ) gene and typically presents as asymptomatic hypercalcemia with inappropriately low urinary calcium excretion and normal or mildly elevated levels of parathyroid hormone .To describe a case of FHH associated with Kabuki syndrome and Crohn disease .G enomic DNA was screened for CASR mutations and a retrospective chart review was performed .Heterozygosity was observed in exon 3 , which encodes a portion of the extra -cellular domain . Sequencing revealed a n .476 T >G nucleotide transversion , predicting a non-conservative substitution of arginine for leucine at codon 159 (p .L 159 R ).An association between Kabuki syndrome and autoimmune disease has been described in the literature , which may explain the connection between Kabuki syndrome and Crohn disease . However , it remains unclear if there is a link between FHH , Kabuki syndrome and Crohn disease in this case .

Diseases
Validation

Diseases presenting "inappropriately low urinary calcium excretion" symptom

familial hypocalciuric hypercalcemia

kabuki syndrome

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