Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia
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Josephine Ho
ABSTRACT
Background: 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.
Objective: To describe a case of FHH associated with Kabuki syndrome and Crohn disease.
Method: Genomic DNA was screened for CASR mutations and a retrospective chart review was performed.
Results: Heterozygosity 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 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.
© Freund Publishing House Ltd.
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Artikel in diesem Heft
- The Soy That Surrounds Us: An Endless Debate
- Soy as an Endocrine Disruptor: Cause for Caution?
- Mass Ascites in Mulibrey Nanism
- Delayed Gastric Emptying in Patients with Prader Willi Syndrome
- Age and Sex Differences in Fat Distribution in Non-Obese Japanese Children
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- Bone Maturation in 1788 Children and Adolescents with Diabetes Mellitus Type 1
- Serum Thyroid Hormone Levels in Preterm Infants Born before 33 Weeks of Gestation and Association of Transient Hypothyroxinemia with Postnatal Characteristics
- Birth Length is a Predictor of Adiponectin Levels in Japanese Young Children
- Genotype-Phenotype Correlation in CAH Patients with Severe CYP21A2 Point Mutations in the Republic of Macedonia
- Benign Transient Hyperphosphatasemia of Infancy. A Common Benign Scenario, a Big Concern for a Pediatrician
- Scarcity Despite Wealth: Osteopetrorickets
- Growth Hormone Therapy and the Risk of Tumor Recurrence after Brain Tumor Treatment in Children
- Insulin Resistance and the Metabolic Syndrome in Obese Children Referred to an Obesity Center
- Severe Dietary Protein Sensitivity and Hyperinsulinemic Hypoglycemia in a Patient with Heterozygous Mutation in HADH Gene
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- Adverse Effect of Phenytoin on Glucocorticoid Replacement in a Child with Adrenal Insufficiency
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- Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia
