Also known as:
Renal-retinal dysplasia with medullary cystic disease, Cystic disease of the renal medulla, Cysts of the renal medulla, Congenital polycystic kidney disease, medullary type, Uromodulin associated kidney disease, Familial juvenile hyperuricemic nephropathy,
Medullary cystic kidney disease/nephronophthisis describes a number of different conditions that have the following features in common:
- They are inherited.
- Kidney disease develops, and dialysis or kidney transplant is required for treatment at some point.
- Affected individuals sometimes, but not always, produce very large amounts of urine over the course of the day and may suffer from bed-wetting.
- CAT scans or ultrasounds identify cysts in the middle (medulla) of the kidney in some, but not all, patients.
- Gout develops in some types of this disease.