ArticleInternal medicine (Tokyo, Japan)2017
Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene.
Article in Internal medicine (Tokyo, Japan), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- FGD5-AS1 and Th1/Th2 imbalance in the progression of diabetic nephropathy: evidence from bioinformatic and experimental validation.Clinical and experimental medicine · 2025Article
- De Novo HeterozygousInternational journal of molecular sciences · 2025Article
- Therapeutic target prediction for orphan diseases integrating genome-wide and transcriptome-wide association studies.Nature communications · 2025Article
- Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene.Frontiers in endocrinology · 2025Article
- A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.Endocrine journal · 2024Review
- Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome.Journal of endocrinological investigation · 2024Article
- Hypocalcemia not related to chronic kidney disease: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- A Novel Role for GATA3 in Mesangial Cells in Glomerular Development and Injury.Journal of the American Society of Nephrology : JASN · 2019Article
- HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism.Case reports in endocrinology · 2019Article
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10 authors at 2 institutions in 1 country.
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Abstract
Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant disease caused by GATA3 mutations. Although several cases with variable renal features have been reported, the presence of histological changes within the glomeruli in adult patients is unclear. We herein report an adult case of HDR syndrome with a novel p.C288W (TGC>TGG) missense mutation in GATA3. His renal histology showed a membranoproliferative glomerulonephritis-like glomerular lesion. Additional renal histological analyses of HDR syndrome patients will be needed to clarify the role of GATA3 in both the developing and adult kidney.
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