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Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome [PDF]

Case Reports in Nephrology, 2013
Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15.
Nasrollah Maleki, Bahman Bashardoust, Manouchehr Iranparvar Alamdari, Zahra Tavosi   +3 more
doaj   +10 more sources

Novel heterozygous GATA3 and SLC34A3 variants in a 6‐year‐old boy with Barakat syndrome and hypercalciuria [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Barakat syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal anomalies and is caused by mutations in GATA3 gene.
Sha Yu, Wen‐xia Chen, Wei Lu, Chao Chen, Yihua Ni, Bo Duan, Bin Wang, Huijun Wang, Zheng‐min Xu   +8 more
doaj   +6 more sources

Seizure, deafness and renal agenesis: A rare case of barakat syndrome [PDF]

Annals of Indian Academy of Neurology, 2013
Etiologic diagnosis of seizure requires proper consideration of apparently unrelated clinical features of the patient. Here, we report the case of a patient of status epilepticus with moderate-to-severe bilateral sensorineural deafness.
Tanmayjyoti Sau, Atri Chatterjee, Kaushik Ghosh, Sandip Dey   +3 more
doaj   +5 more sources

Barakat syndrome diagnosed decades after initial presentation [PDF]

Endocrinology, Diabetes & Metabolism Case Reports, 2023
Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).
Umberto Spennato, Jennifer Siegwart, Britta Hartmann, Elisabeth Julia Fischer, Cecilia Bracco, Joel Capraro, Beat Mueller, Philipp Schuetz, Andreas Werner Jehle, Tristan Struja   +9 more
doaj   +6 more sources

An Unusual Presentation of Barakat Syndrome: Gene Deletion at Chromosome 10p15 [PDF]

Case Reports in Nephrology
Barakat syndrome, also known as HDR syndrome (HDRS), is an autosomal dominant genetic disease classically characterized by hypoparathyroidism (H), deafness (D), and renal disease (R).
Matthew Satariano, Shaarav Ghose, Sergul Erzurum, Erdal Sarac   +3 more
doaj   +6 more sources

Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome [PDF]

Iranian Journal of Neonatology, 2018
Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome.
shahin mafinejad, Hadi Khorsand Zak, Ghasem Bayani, Hojatollah Ehteshammanesh, Yasaman Bozorgnia   +4 more
doaj   +3 more sources

Severe Hypocalcemia Dependent on Fluconazole in a Newborn With Barakat Syndrome [PDF]

Case Reports in Pediatrics
We present a case of a newborn with Barakat syndrome, characterized by congenital hypoparathyroidism, severe hypocalcemia, recurrent urinary tract infections (UTIs), and congenital candidiasis, which is an atypical feature for this syndrome. The patient,
Dorota Roztoczyńska, Anna Wędrychowicz, Magdalena Ossowska, Aleksandra Furtak, Paulina Miśkiewicz-Stanek, Ewelina Preizner-Rzucidło, Joanna Kwinta-Rybicka, Mateusz Jagła, Jerzy B. Starzyk   +8 more
doaj   +6 more sources

Barakat syndrome presenting as isolated sensorineural hearing loss

Otolaryngology Case Reports
Barakat syndrome is a rare autosomal dominant disease caused by haplo-insufficiency of transcription factor GATA3 on chromosome 10p14. It is characterized by a triad of hypoparathyroidism, sensorineural hearing loss, and renal disease with high ...
Angela S. Zhu, Danielle Reny Larrow, Michael S. Cohen   +2 more
doaj   +4 more sources

Barakat syndrome or HDR syndrome: Another association of kidney disease and deafness

Nefrología (English Edition), 2016
Cuando nos enfrentamos ante un paciente con afectación renal y sordera, con frecuencia pensamos en un síndrome de Alport, por tratarse de una entidad ampliamente difundida, pero no siempre es así. En el último número de la revista Nefrología, se publica una excelente revisión sobre la afectación renal en el contexto de las enfermedades mitocondriales y
Patrocinio Rodríguez Benítez, María Teresa Jaldo Rodríguez, Andrés Hernández Coronado, Esther Torres Aguilera, Rosa Melero, Alberto Tejedor   +5 more
doaj   +9 more sources

Barakat syndrome: clinical case

Лечащий Врач
Background. Barakat syndrome (HDR syndrome, Hypoparathyroidism, Deafness, Renal dysplasia syndrome, OMIM 146255) is a hereditary disease characterized by hypoparathyroidism, hearing loss and renal disease. The syndrome was first described by the American
L. S. Sozaeva, A. A. Dzhamaludinova, I, V. Kopylova, A. L. Kalinin, I. S. Chugunov   +4 more
doaj   +2 more sources