scholarly journals A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3 , p.W10Cfs40, lacks kidney malformation

2020 ◽  
Vol 8 (12) ◽  
pp. 2619-2624
Author(s):  
Haruka Kishi ◽  
Teruo Jojima ◽  
Takahiko Kogai ◽  
Toshie Iijima ◽  
Eriko Ohira ◽  
...  
Keyword(s):  
Renal Dysplasia ◽  
Kidney Malformation ◽  
Hdr Syndrome

A Novel GATA3 Nonsense Mutation in a Newly Diagnosed Adult Patient of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome

2013 ◽  
Vol 19 (1) ◽  
pp. e17-e20 ◽  
Author(s):  
Kazutaka Nanba ◽  
Takeshi Usui ◽  
Michikazu Nakamura ◽  
Yuko Toyota ◽  
Keisho Hirota ◽  
...  
Keyword(s):  
Adult Patient ◽  
Nonsense Mutation ◽  
Renal Dysplasia ◽  
Newly Diagnosed ◽  
Hdr Syndrome

scholarly journals HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Mustafa Can ◽  
Feridun Karakurt ◽  
Muhammed Kocabas ◽  
İlker Cordan ◽  
Melia Karakose ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Chronic Kidney Disease ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Autosomal Dominant ◽  
Sensorineural Deafness ◽  
Renal Dysplasia ◽  
Autosomal Dominant Disorder ◽  
Hdr Syndrome

HDR (Hypoparathyroidism, Deafness, and Renal Dysplasia) syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. Approximately 65% of patients with HDR syndrome have all three of these features, while others have different combinations of these features. We aimed to present a case with primary hypoparathyroidism, hearing loss, and nondiabetic chronic kidney disease and diagnosed as HDR syndrome while being followed up for type 1 diabetes mellitus and hypopituitarism.

scholarly journals The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome

2015 ◽  
Vol 7 (2) ◽  
pp. 140-143 ◽  
Author(s):  
Hakan Döneray ◽  
Takeshi Usui ◽  
Avni Kaya ◽  
Ayşe Sena Dönmez
Keyword(s):  
Renal Dysplasia ◽  
Turkish Case ◽  
Hdr Syndrome

scholarly journals Characterization ofGATA3Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome

2004 ◽  
Vol 279 (21) ◽  
pp. 22624-22634 ◽  
Author(s):  
M. Andrew Nesbit ◽  
Michael R. Bowl ◽  
Brian Harding ◽  
Asif Ali ◽  
Alejandro Ayala ◽  
...  
Keyword(s):  
Renal Dysplasia ◽  
Hdr Syndrome

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)

1997 ◽  
Vol 73 (4) ◽  
pp. 416-418 ◽  
Author(s):  
Tomonobu Hasegawa ◽  
Yukihiro Hasegawa ◽  
Taiji Aso ◽  
Shinobu Koto ◽  
Toshiro Nagai ◽  
...  
Keyword(s):  
Sensorineural Deafness ◽  
Renal Dysplasia ◽  
Hdr Syndrome

scholarly journals A Novel Role for GATA3 in Mesangial Cells in Glomerular Development and Injury

2019 ◽  
Vol 30 (9) ◽  
pp. 1641-1658 ◽  
Author(s):  
Irina V. Grigorieva ◽  
Andre Oszwald ◽  
Elena F. Grigorieva ◽  
Helga Schachner ◽  
Barbara Neudert ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Mesangial Cells ◽  
Critical Role ◽  
Renal Dysplasia ◽  
Rodent Models ◽  
Ureteric Bud ◽  
Tissue Sections ◽  
Gata3 Expression ◽  
Glomerular Development ◽  
Hdr Syndrome

BackgroundGATA3 is a dual-zinc finger transcription factor that regulates gene expression in many developing tissues. In the kidney, GATA3 is essential for ureteric bud branching, and mice without it fail to develop kidneys. In humans, autosomal dominant GATA3 mutations can cause renal aplasia as part of the hypoparathyroidism, renal dysplasia, deafness (HDR) syndrome that includes mesangioproliferative GN. This suggests that GATA3 may have a previously unrecognized role in glomerular development or injury.MethodsTo determine GATA3’s role in glomerular development or injury, we assessed GATA3 expression in developing and mature kidneys from Gata3 heterozygous (+/−) knockout mice, as well as injured human and rodent kidneys.ResultsWe show that GATA3 is expressed by FOXD1 lineage stromal progenitor cells, and a subset of these cells mature into mesangial cells (MCs) that continue to express GATA3 in adult kidneys. In mice, we uncover that GATA3 is essential for normal glomerular development, and mice with haploinsufficiency of Gata3 have too few MC precursors and glomerular abnormalities. Expression of GATA3 is maintained in MCs of adult kidneys and is markedly increased in rodent models of mesangioproliferative GN and in IgA nephropathy, suggesting that GATA3 plays a critical role in the maintenance of glomerular homeostasis.ConclusionsThese results provide new insights on the role GATA3 plays in MC development and response to injury. It also shows that GATA3 may be a novel and robust nuclear marker for identifying MCs in tissue sections.

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