a new pkd-1 mutation discovered in a black african woman with autosomal polycystic kidney disease

A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease

Autosomal polycystic kidney disease (ADPKD) is a genetic disorder with two causal PKD-1 and PKD-2. Genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in African populations. We report a new mutation found in a 41-year old women with mild chronic kidney disease secondary to ADPKD. Molecular genetic testing found a del...

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

                 

A new PKD1 mutation discovered in a Chinese family with autosomal polycystic kidney disease.

BACKGROUND/AIMS Autosomal-dominant polycystic kidney disease (ADPKD), a heterogeneous genetic disorder characterized by massive kidney enlargement and progressive chronic kidney disease, is due to abnormal proliferation of renal tubular epithelium. ADPKD is known to be caused by mutations in PKD1 and PKD2 genes. METHODS In the present study, the mutation analysis of PKD genes was performed in...

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

Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease

Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...

Fasting in a 16-year-old girl at-risk of autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. PKD currently has no causative therapy. However, some treatment options are available, ranging from symptomatic therapy to delaying the onset of end-stage renal failure. Early diagnosis of adult polycystic kidney disease is vital in order to prevent its complic...