Universität zu Köln

Madsen, Jens Otto Broby ORCID: 0000-0003-1186-4683, Sauer, Sabrina, Beck, Bodo and Johannesen, Jesper ORCID: 0000-0003-2772-2567 (2018). CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia. J. Clin Res. Pediatr. Endocrinol., 10 (1). S. 83 - 87. FINDIKZADE: GALENOS YAYINCILIK. ISSN 1308-5735

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Abstract

Idiopathic infantile hypercalcemia (IIH) was associated with vitamin-D supplementation in the 1950's. Fifty years later, mutations in the CYP241A gene, involved in the degradation of vitamin-D, have been identified as being a part of the etiology. We report a case of a 21-month old girl, initially hospitalized due to excessive consumption of water and behavioral difficulties. Blood tests showed hypercalcemia and borderline high vitamin-D levels. Renal ultrasound revealed medullary nephrocalcinosis. An abnormality in vitamin-D metabolism was suspected and genetic testing was performed. This revealed the patient to be compound heterozygous for a common (p.E143del) and a novel (likely) disease-causing mutation (p.H83D) in the CYP24A1 gene. The hypercalcemia normalized following a calcium depleted diet and discontinuation of vitamin-D supplementation. Increased awareness of the typical symptoms of hypercalcemia, such as anorexia, polydipsia, vomiting and failure to thrive, is of utmost importance in diagnosing IHH early and preventing long-term complications such as nephrocalcinosis. Further identification of as many disease-causing mutations in the CYP24A1 gene as possible can help identification of predisposed individuals in whom vitamin-D supplementation should be reconsidered.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Madsen, Jens Otto Broby UNSPECIFIED orcid.org/0000-0003-1186-4683 UNSPECIFIED Sauer, Sabrina UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Bodo UNSPECIFIED UNSPECIFIED UNSPECIFIED Johannesen, Jesper UNSPECIFIED orcid.org/0000-0003-2772-2567 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-194830
DOI:	10.4274/jcrpe.4841
Journal or Publication Title:	J. Clin Res. Pediatr. Endocrinol.
Volume:	10
Number:	1
Page Range:	S. 83 - 87
Date:	2018
Publisher:	GALENOS YAYINCILIK
Place of Publication:	FINDIKZADE
ISSN:	1308-5735
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language VITAMIN-D; NEPHROCALCINOSIS; GENE Multiple languages Endocrinology & Metabolism; Pediatrics Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/19483