Complexities of Barakat syndrome: Insights from two challenging cases
Year: 2025
Type: article
Study design: Case Report
Abstract: ABSTRACT Barakat syndrome, characterized by the triad of hypoparathyroidism, deafness, and renal disease, also known as hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome, is an autosomal dominant, rare genetic disease caused by haploinsufficiency of the GATA -binding protein 3 ( GATA3 ) gene. We describe two cases with distinct clinical presentations and shared underlying genetic abnormality. Clinicians should be aware of this rare inherited condition when a patient presents with a constellation of signs and symptoms because it allows early intervention to minimize future clinical problems.
Source: IJEM Case Reports
Authors: Amita Sodhi Verma, Shaila Shamanur Bhattacharyya
Institution: Manipal Hospital
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4411577753