Verjans, Marcelien;
Hindryckx, An;
Rosier, Karen;
Devriendt, Koen;
Mekahli, Djalila;
Bockenhauer, Detlef;
(2024)
Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2.
Pediatric Nephrology
10.1007/s00467-024-06403-8.
(In press).
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Abstract
Infantile hypercalcemia (IH) is a rare genetic disorder characterized by hypercalcemia, hypercalciuria, low parathyroid hormone, and nephrocalcinosis during the first months of life. Biallelic variants in the genes CYP24A1 and SCL34A1 cause IH1 and 2, respectively. We present the case of a newborn with an antenatal diagnosis of IH2 due to the identification of echogenic, yet normal-sized kidneys at 23 weeks gestation. Trio whole-exome sequencing initially identified only a heterozygous pathogenic variant in SLC34A1. Re-analysis of the exome data because of the clinical suspicion of IH2 revealed a 21-basepair deletion in trans that had initially been filtered out because of its high allele frequency. The diagnosis of IH2 enabled postnatal screening for hypercalcemia, present already at week 1, resulting in early treatment with phosphate supplementation and vitamin D avoidance. In the subsequent course, biochemical parameters were normalized, and the patient showed no obvious clinical complications of IH2, apart from the nephrocalcinosis.
Type: | Article |
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Title: | Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2 |
Location: | Germany |
Open access status: | An open access version is available from UCL Discovery |
DOI: | 10.1007/s00467-024-06403-8 |
Publisher version: | http://dx.doi.org/10.1007/s00467-024-06403-8 |
Language: | English |
Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
Keywords: | Infantile hypercalcemia type 2, SLC34A1, NaPi2a, nephrocalcinosis, antenatal presentation, phosphate supplementation |
UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine |
URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10193063 |
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