A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5

A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)

Maturity-onset diabetes of the young (MODY) is both a genetically and clinically heterozygous type of diabetes mellitus characterized by early onset (often before 25 yr of age) and absence of pancreatic β-cell autoimmunity markers (1). To date, mutations in several distinct genes have been implicated in MODY (1, 2). Among the different types of MODY, MODY5 is caused by mutations in the gene enc...

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease

                 

a novel pkd1 mutation in a patient with autosomal dominant polycystic kidney disease

A review on autosomal dominant tubulointerstitial kidney disease.

In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification of terminology, diagnostic criteria and monitoring. So far 4genes causing autosomal dominant tubulointerstitial kidney disease ha...

Novel mutation in the hepatocyte nuclear factor 1B/maturity – onset diabetes of the young type 5 gene – unreported Vietnamese case

Maturity-onset diabetes of the young type 5 (MODY5), a type of dominantly inherited diabetes mellitus and nephropathy, has been associated with mutations of the hepatocyte nuclear factor-1 (HNF-1b) gene, mostly generating truncated protein. Various phenotypes are related to HNF-1b mutations. Our aim to describe clinical and genetic findings in the unreported Vietnamese case identified with HNF-...