Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature

Nutrients

卷:14

Armin Zittermann¹  Sieglinde Zelzer²  Winfried März²  Andreas Meinitzer²  Pawel Pludowski³  Waldemar Misiorowski⁴  Stefan Pilz⁵  Christian Trummer⁵  Verena Theiler-Schwetz⁵  Spyridon N. Karras⁶ 

[1] Clinic for Thoracic and Cardiovascular Surgery, Herz- und Diabeteszentrum Nordrhein-Westfalen (NRW), Ruhr University Bochum, 32545 Bad Oeynhausen, Germany;

[2] Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, 8036 Graz, Austria;

[3] Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland;

[4] Department of Endocrinology, Centre of Postgraduate Medical Education, Bielanski Hospital, 01-809 Warsaw, Poland;

[5] Department of Internal Medicine, Division of Endocrinology and Diabetology, Medical University of Graz, Auenbruggerplatz 15, 8036 Graz, Austria;

[6] National Scholarship Foundation, 55535 Thessaloniki, Greece;

关键词: vitamin D;    CYP24A1;    pregnancy;    hypercalcemia;    fertility;    lactation;   

DOI  :  10.3390/nu14122518

来源: DOAJ

【 摘 要 】

Pathogenic mutations of CYP24A1 lead to an impaired catabolism of vitamin D metabolites and should be considered in the differential diagnosis of hypercalcemia with low parathyroid hormone concentrations. Diagnosis is based on a reduced 24,25-dihydroxyvitamin D to 25-hydroxyvitamin D ratio and confirmed by genetic analyses. Pregnancy is associated with an upregulation of the active vitamin D hormone calcitriol and may thus particularly trigger hypercalcemia in affected patients. We present a case report and a narrative review of pregnant women with CYP24A1 mutations (13 women with 29 pregnancies) outlining the laboratory and clinical characteristics during pregnancy and postpartum and the applied treatment approaches. In general, pregnancy triggered hypercalcemia in the affected women and obstetric complications were frequently reported. Conclusions on drugs to treat hypercalcemia during pregnancy are extremely limited and do not show clear evidence of efficacy. Strictly avoiding vitamin D supplementation seems to be effective in preventing or reducing the degree of hypercalcemia. Our case of a 24-year-old woman who presented with hypercalcemia in the 24th gestational week delivered a healthy baby and hypercalcemia resolved while breastfeeding. Pathogenic mutations of CYP24A1 mutations are rare but should be considered in the context of vitamin D supplementation during pregnancy.

【 授权许可】

Unknown