Phenotype #0000016756

Individual ID	00017940
Associated disease	PKD1
Phenotype details	8 family members were confirmed as polycystic kidney patients. 2 patients reached end-stage renal failure and started hemodialysis at 47y and 64y. Both successfully received transplants, later died due to coronary/artery disease and myocardial infarctions. All other affected members, aged 18–50y, have large polycystic kidneys with large cysts appearing early in their second and third decades of life. Affected members develop various degrees of kidney failure and hypertension.
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Cysts	-
Hypertension	-
Protein	-
Owner name	Marianne Vos (LOVD-team)
Database submission license
Created by	Marianne Vos (LOVD-team)
Date created	2014-07-07 20:17:27 +02:00 (CEST)
Date last edited	2014-07-07 20:18:13 +02:00 (CEST)

Global Variome shared LOVD