A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-Up
| العنوان: | A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-Up |
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| المؤلفون: | Adalbert Raimann, Franco Laccone, Diana-Alexandra Ertl, Janina M. Patsch, Dagmar Csaicsich, Gabriele Haeusler |
| المصدر: | Hormone Research in Paediatrics. 87:196-204 |
| بيانات النشر: | S. Karger AG, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, Pediatrics, Endocrinology, Diabetes and Metabolism, 030232 urology & nephrology, 030209 endocrinology & metabolism, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, CYP24A1, Hypercalcemia Therapy, medicine, Humans, Point Mutation, Infantile hypercalcemia, Vitamin D3 24-Hydroxylase, Normal range, business.industry, Follow up studies, Infant, nutritional and metabolic diseases, Pediatric patient, Child, Preschool, Pediatrics, Perinatology and Child Health, Failure to thrive, Hypercalcemia, Female, medicine.symptom, business, Follow-Up Studies, Rickets |
| الوصف: | Background: A female infant was admitted to hospital due to failure to thrive. She presented hypercalcemia (4.09 mmol/L, normal range: 2.2-2.65 mmol/L), high 25-hydroxyvitamin D (283 nmol/L, normal range: 75-250 nmol/L), 1,25-dihydroxyvitamin D in the upper normal range, and low parathyroid hormone. Vitamin D intoxication was suspected. The patient had received routine rickets prophylaxis. Methods: Williams-Beuren syndrome was genetically excluded. Sequencing of CYP24A1 showed 2 mutations: c.443T>C and c.1186C>T. Results: The patient's clinical status improved after intravenous rehydration, cessation of supplementation, and on a low-calcium diet. 25-Hydroxyvitamin D concentrations normalized within days, while 1,25-dihydroxyvitamin D remained in the upper normal range. We also investigated our patient's bone health. Conclusion: The patient was hospitalized initially on suspicion of vitamin D intoxication but proved to be a case of compound heterozygosity. Data on the long-term clinical and biochemical evolution of patients with idiopathic infantile hypercalcemia are sparse. Our follow-up showed seasonal variations of vitamin D and calcium parameters, with no influence on kidney function or bone health for the investigated period. |
| تدمد: | 1663-2826 1663-2818 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eae9b00abefa4b9dfe72a28a7e3abdb7Test https://doi.org/10.1159/000450947Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....eae9b00abefa4b9dfe72a28a7e3abdb7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16632826 16632818 |
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