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

TitleKabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia.
Publication TypeJournal Article
Year of Publication2010
AuthorsHo J, Fox D, Innes MA, McLeod R, Butzner D, Johnson N, Trevenen C, Kendrick V, Cole DEC
JournalJournal of pediatric endocrinology & metabolism : JPEM
Volume23
Issue9
Pagination975-9
Date Published2010 Sep
ISSN0334-018X
KeywordsAbnormalities, Multiple, Crohn Disease, Face, Hematologic Diseases, Humans, Hypercalcemia, Male, Receptors, Calcium-Sensing, Vestibular Diseases
Abstract

BACKGROUND: Familial hypocalciuric hypercalcemia (FHH) results from a mutation of the calcium sensing receptor (CASR) genei and typically presents as asymptomatic hypercalcemia with inappropriately low urinary calcium excretion and normal or mildly elevated levels of parathyroid hormone.

OBJECTIVE: To describe a case of FHH associated with Kabuki syndrome and Crohn disease.

METHOD: Genomic DNAi was screened for CASR mutations and a retrospective chart review was performed.

RESULTS: Heterozygosityi was observed in exon 3, which encodes a portion of the extra-cellular domain. Sequencing revealed a n.476T>G nucleotide transversion, predicting a non-conservative substitution of arginine for leucine at codon 159 (p.L159R).

CONCLUSION: An association between Kabuki syndrome and autoimmune diseasei 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.

Alternate JournalJ. Pediatr. Endocrinol. Metab.
Citation Key924
PubMed ID21175100