■遗传性维生素D依赖性II型病(HVDDR-II型)是一种罕见的常染色体隐性遗传病,由编码维生素D受体(VDR)的基因的分子变异引起。本研究旨在评估沙特阿拉伯最大的HVDDRII型患者组的表型和基因型特征以及长期随访。
■我们进行了回顾性图表回顾,以收集临床,生物化学,以及目前在费萨尔国王专科医院和研究中心接受治疗的所有HVDDRII型患者的遗传数据,利雅得,沙特阿拉伯。
■总共42名患者,57.1%女性,和42.9%男性纳入研究。7例患者接受高剂量口服钙剂治疗,35例患者接受静脉钙剂治疗。演示时的中位年龄为15.5个月。在97.6%中发现脱发,21.4%的人腿弯曲,14.3%的步行延迟,9.5%癫痫发作,2.4%出现呼吸衰竭,而该疾病的家族史在71.4%的患者中为阳性。在我们的队列中对VDR基因进行的分子遗传测试鉴定出六种不同的基因变体c.885C>A(p。Tyr295Ter),c.88C>T(p。Arg30Ter),c.1036G>A(p。Val346Met),c.820C>T(p。Arg274Cys),c.803T>C(p。Ile268Thr),c.2T>G(p。Met1?)。
■我们正在描述最大的II型HVDDR患者队列,他们的临床生化发现,以及我们人群中最普遍的遗传变异。
UNASSIGNED: Hereditary Vitamin D-dependent rickets type II (HVDDR-type II) is a rare autosomal recessive disorder caused by molecular variation in the gene encoding the vitamin D receptor (VDR). This study aims to evaluate phenotype and genotype characteristics and long-term follow-up of the largest group of patients with (HVDDR-type II) in Saudi Arabia.
UNASSIGNED: We conducted a retrospective chart review to collect the clinical, biochemical, and genetic data for all HVDDR-type II patients currently receiving treatment at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
UNASSIGNED: A total of 42 patients, 57.1% female, and 42.9% male were included in the study. Seven patients were treated with high doses of oral calcium, while 35 patients were treated with IV calcium infusion. The median age at presentation was 15.5 months. Alopecia was found in 97.6%, 21.4% presented with bowing legs, 14.3% with delayed walking, 9.5% with seizure, and 2.4% presented with respiratory failure, while a family history of the disease was positive in 71.4% of total patients. Molecular genetic testing of the VDR gene in our cohort identified six different gene variants c.885 C>A (p.Tyr295Ter), c.88 C>T (p.Arg30Ter), c.1036G>A (p.Val346Met), c.820C>T (p.Arg274Cys), c.803 T>C (p.Ile268Thr), and c.2T>G (p.Met1?).
UNASSIGNED: We are describing the largest cohort of patients with HVDDR-type II, their clinical biochemical findings, and the most prevalent genetic variants in our population.