ISSN: 1308-5727 | E-ISSN: 1308-5735
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Turkish Society for Pediatric Endocrinology and Diabetes
A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2016; 8(4): 484-489 | DOI: 10.4274/jcrpe.3128

A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population

Bahar Özcabı1, Feride Tahmiscioğlu Bucak1, Sevinç Jaferova1, Çiğdem Oruç1, Amra Adrovic1, Serdar Ceylaner2, Oya Ercan1, Olcay Evliyaoğlu1
1İstanbul University Cerrahpaşa Faculty Of Medicine, Department Of Pediatric Endocrinology, İstanbul, Turkey
2Intergen Genetic Center And Yüksek İhtisas University Faculty Of Medicine, Department Of Medical Genetics, Ankara, Turkey

Vitamin D-dependent rickets type 1A (VDDR-1A) (Online Mendelian Inheritance in Man #264700) is a rare, autosomal recessively inherited disorder due to inactivating mutations in CYP27B1. It is characterized by early onset of rickets with hypocalcemia. We aimed to describe the clinical and laboratory findings in a VDDR-1A case and to report a novel homozygote truncating mutation NM_000785.3 c.403C>T (p.Q135*) in CYP27B1 which to our knowledge is the first described mutation in the Uzbek population. The patient was admitted with tetany at the age of 12 months. He was a healthy Uzbek boy until 9 months of age when he had a seizure due to hypocalcemia. Vitamin D treatment was given orally in Turkmenistan (no data available for dose and duration). The patient was the product of a consanguineous marriage. His brother had died with hypocalcemia and pneumonia. At physical examination, anthropometric measurements were within normal limits; he had caput quadratum, enlarged wrists, and carpopedal spasm. Blood calcium, phosphorus, alkaline phosphatase, and parathormone (PTH) levels were 5.9 mg/dL, 3.5 mg/dL, 987 IU/L, and 182.8 pg/mL (12-72), respectively. Radiological findings included cupping and fraying of the radial and ulnar metaphyses. Renal ultrasound revealed nephrocalcinosis (grade 1). Despite high serum PTH and 25-hydroxyvitamin D3 levels, 1,25-dihydroxyvitamin D3 level was low, suggesting a diagnosis of VDDR-1A. The patient was treated with calcium carbonate and calcitriol. DNA sequencing revealed a novel homozygous mutation of NM_000785.3 c.403C>T (p.Q135*) in CYP27B1. VDDR-1A is a rare disorder which needs to be considered even in countries where nutritional vitamin D deficiency is still common.

Keywords: 25-hydroxyvitamin D 1-? hydroxylase,the CYP27B1 gene,vitamin D-dependent rickets type 1,calcitriol

Bahar Özcabı, Feride Tahmiscioğlu Bucak, Sevinç Jaferova, Çiğdem Oruç, Amra Adrovic, Serdar Ceylaner, Oya Ercan, Olcay Evliyaoğlu. A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population. J Clin Res Pediatr Endocrinol. 2016; 8(4): 484-489
Manuscript Language: English
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