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

TítuloKabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia.
Tipo de PublicaciónJournal Article
Nuevas Publicaciones2010
AutoresHo J, Fox D, Innes MA, McLeod R, Butzner D, Johnson N, Trevenen C, Kendrick V, Cole DEC
JournalJournal of pediatric endocrinology & metabolism : JPEM
Volumen23
Ejemplar9
Pagination975-9
Año de publicación2010 Sep
ISBN0334-018X
Palabras claveAbnormalities, Multiple, Crohn Disease, Face, Hematologic Diseases, Humans, Hypercalcemia, Male, Receptors, Calcium-Sensing, Vestibular Diseases
Resumen

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