Yang Jinyan, Mei Yanjie, Tang Feifei, Guo Xinhong, Kong Yanhua, Deng Ying
Department of Endocrinology, Bozhou People's Hospital, Anhui Province, China.
Department of Endocrinology, The First Affiliated Hospital of Nanchang Medical University, Jiangxi, China.
Front Genet. 2025 Apr 22;16:1501427. doi: 10.3389/fgene.2025.1501427. eCollection 2025.
This article reports a case of a young woman who was admitted to the hospital with "sudden convulsions for 3 h." She was diagnosed with hypoparathyroidism and found to have sensorineural deafness and left renal agenesis. A diagnosis of hypoparathyroidism-sensorineural deafness-renal dysplasia (HDR) syndrome was established, and the patient was treated with calcium and active vitamin D. After 2 years of follow-up, her blood calcium levels continued to fluctuate significantly. Subsequently, a heterozygous variant in the gene (NM_001002295.2:c.404dup) was detected. According to the literature, patients with HDR syndrome require low doses of active vitamin D supplementation. Excessively high blood calcium levels should be avoided, and treatment should be individualized.
本文报道了一名年轻女性病例，该患者因“突发抽搐3小时”入院。她被诊断为甲状旁腺功能减退症，并被发现患有感音神经性耳聋和左肾发育不全。确诊为甲状旁腺功能减退症-感音神经性耳聋-肾发育不良（HDR）综合征，患者接受了钙和活性维生素D治疗。经过2年的随访，她的血钙水平仍持续显著波动。随后，在该基因（NM_001002295.2:c.404dup）中检测到一个杂合变异。根据文献，HDR综合征患者需要补充低剂量的活性维生素D。应避免血钙水平过高，治疗应个体化。
