Medullary Cystic Kidney Disease/Nephronophthisis
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Medullary Cystic Kidney Disease/Nephronophthisis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- 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
- Loken-Senior Syndrome
Medullary cystic kidney disease/nephronophthisis describes a number of different conditions that have the following features in common:
(1) They are inherited.
(2) Kidney disease develops, and dialysis or kidney transplant is required for treatment at some point.
(3) Affected individuals sometimes, but not always, produce very large amounts of urine over the course of the day and may suffer from bed-wetting.
(4) CAT scans or ultrasounds identify cysts in the middle (medulla) of the kidney in some, but not all, patients.
(5) Gout develops in some types of this disease.
These diseases can be divided into two groups or subtypes.
The first group, termed nephronophthisis, is characterized by an autosomal recessive inheritance. This means that affected children must inherit two genes for the disease that have a mistake (mutation) in them. There are at least four types of nephronophthisis. All four types are associated with the production of large amoungs of urine. All four types are associated with the production of large amounts of urine early in life and bedwetting. In type 1, kidney failure develops at about age 13. In type 2, kidney failure usually develops from 1 to three years of age. In type 3, kidney failure develops at about age 19, and in type 4, kidney failure develops in the teenage years. In addition, about 15 percent of people with nephronophthisis also experience visual impairment caused by degeneration of the retina of the eyes (renal-retinal dysplasia).
The second group, termed medullary cystic kidney disease, is characterized by autosomal dominant inheritance. There are at least two types of medullary cystic kidney disease, and kidney failure develops between ages 30 and 70. Gout is frequently present in medullary cystic kidney disease type 2. [For more information on this disorder, see the section on familial juvenile hyperuricemic nephropathy, which is the same disease.]
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
American Kidney Fund, Inc.
6110 Executive Boulevard
Rockville, MD 20852
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
American Urological Association Foundation
1000 Corporate Blvd.
Linthicum, MD 21090
NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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