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Medullary Cystic Kidney Disease/Nephronophthisis
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Copyright 1986, 1990, 1994, 2004
NORD is grateful to Anthony Bleyer, MD, and Jaspreet Sandhu of the Bowman Gray School of Medicine at Wake Forest University for assistance in the preparation of this report.
Synonyms of Medullary Cystic Kidney Disease/Nephronophthisis
- Cystic Disease of the Renal Medulla
- Cysts of the Renal Medulla, Congenital
- Familial Juvenile Hyperuricemic Nephropathy
- Loken-Senior Syndrome
- Polycystic Kidney Disease, Medullary Type
- Renal-Retinal Dysplasia with Medullary Cystic Disease
- Uromodulin Associated Kidney Disease
Disorder Subdivisions
- Medullary Cystic Kidney Disease
- Nephronophthisis
General Discussion
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.]
Organizations related to Medullary Cystic Kidney Disease/Nephronophthisis
- American Kidney Fund, Inc.
6110 Executive Boulevard
Suite 1010
Rockville MD 20852
Phone #: 301-881-3052
800 #: 800-638-8299
e-mail: helpline@kideyfund.org
Home page: http://www.kidneyfund.org
- American Urological Association Foundation
1000 Corporate Blvd.
Linthicum MD 21090
Phone #: 410-689-3700
800 #: 866-746-4282
e-mail: auafoundation@auafoundation.org
Home page: http://www.auafoundation.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda MD 20892-3580
Phone #: N/A
800 #: 800-891-5390
e-mail: nkudic@info.niddk.nih.gov
Home page: http://kidney.niddk.nih.gov/
- National Kidney Foundation
30 East 33rd Street
New York NY 10016
Phone #: 212-889-2210
800 #: 800-622-9010
e-mail: info@kidney.org
Home page: http://www.kidney.org
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