Abstract: PUB280
Progressive CKD Is Associated with Multiple Kidney Cyst Formation in Adult and Elderly Patients with Genetic Variations of Kidney Disease
Session Information
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Cystic
Author
- Mihindu, Joseph C., Saratoga Hospital, Saratoga Springs, New York, United States
Introduction
CKD affects about 10 % of the global population. Common etiologies including Diabetes, Hypertension(HTN), Glomerulonephritis etc. are well known; a large number of patients however have CKD of unknown etiology. Genome wide association studies have revealed multiple genetic variations associated with CKD renal phenotype. This abstract documents 2 patients with autosomal recessive (AR) and 2 patients with Autosomal dominant(AD) genetic variations associated with progressive CKD and multiple cyst formation (MRC) in adult and elderly population. Some of the AR variations in homozygous state would have caused severe CKD in early infancy associated with cystic renal changes. None of these patients had evidence of Autosomal Dominant or Resessive Polycystic Kidney Disease Gene variation.
Case Description
Initials Age Race Sex [Presenting Phenotype] [Genetic variation] [Phenotype in Homozygous disease]:
JBL 89 W F [CKDG4,HTN,MRC] [AR INPP5E] [Joubert’s Syndrome,Nephronophthisis,CKD, Hepatic fibrosis]
GW 74 W F [CKDG2,HTN,MRC] [ AR CC2D2A ] [COACH syndrome, Nephronophthisis, CKD,Hepatic fibrosis]
AEP 80 WM [CKDG5,HTN,MRC] [AR or AD NMNA] [Lipodystrophy, Insulin resitance, Proteinuria, Premature CVD]
BJF 65 W F [CKDG5, MRC] [ADTKD-UMO] [Chronic Tunbulointerstitial Nephritis,Progressive CKD]
Discussion
These case studies are in agreement with recent studies showing the association of genetic variations with progressive CKD.
Two patients (JBL and GW) have specific AR variations. The AD state of these variations is associated with severe CKD and Nephronophthisis in early infancy. In conclusion, the following hypothesis is set forth: the Autosomal Dominant gene which protected these 2 patients from the development of severe disease in early life may lose its dominant function with advancing years. This may result in the resurgence of the Ressessive varient leading to the development of Cystic disease and CKD in later years. These case studies show the importance of genetic variants in the development of CKD.