Year: 2025
Type: article
Study design: Case Report
Abstract: 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 GATA3 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.
Source: Frontiers in Genetics
Authors: Jinyan Yang, Yanjie Mei, Feifei Tang, Xinhong Guo, Yanhua Kong, Ying Deng
Institution: Bozhou People's Hospital
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W4409688893