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

A near‐haploid clone harboring aBCR/ABL1gene fusion in an adult patient with newly diagnosed B‐lymphoblastic leukemia

2019 ◽  
Author(s):  
Jess F. Peterson ◽  
Rhett P. Ketterling ◽  
Li Huang ◽  
Laura E. Finn ◽  
Min Shi ◽  
...  
Keyword(s):  
Adult Patient ◽  
Lymphoblastic Leukemia ◽  
Newly Diagnosed

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

scholarly journals Uremic Pancolitis in an Adult Patient with Newly Diagnosed, Rapidly Progressive Crescentic Immunoglobulin A Nephropathy

Cureus ◽  
2019 ◽  
Author(s):  
Hector H Gonzalez ◽  
Meaghan McMahon ◽  
Angel E Sanchez ◽  
Jennifer G Foster ◽  
Ira Lazar
Keyword(s):  
Adult Patient ◽  
Immunoglobulin A ◽  
Newly Diagnosed ◽  
Immunoglobulin A Nephropathy

Hypoglycemia

2016 ◽  
Author(s):  
Claire Douillard
Keyword(s):  
Adult Patient ◽  
Inborn Error ◽  
Inborn Errors Of Metabolism ◽  
Newly Diagnosed ◽  
Multisystem Disorder ◽  
Inborn Errors ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Newly diagnosed hypoglycemia in an adult patient caused by a hitherto undiagnosed inborn error of metabolism is rare. However, the implications are important as follow-up and treatments may differ, especially when hypoglycemia is part of a multisystem disorder. This chapter describes the different inborn errors of metabolism that can present with or be revealed by hypoglycemia, with emphasis on the diagnostic work-up and symptoms.

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