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

Disorder Subdivisions

  • Nephronophthisis
  • Medullary Cystic Kidney Disease

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.]


March of Dimes Birth Defects Foundation
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American Kidney Fund, Inc.
6110 Executive Boulevard
Suite 1010
Rockville, MD 20852
Tel: (301)881-3052
Fax: (301)881-0898
Tel: (800)638-8299

National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010

American Urological Association Foundation
1000 Corporate Blvd.
Linthicum, MD 21090
Tel: (410)689-3700
Fax: (410)689-3800
Tel: (866)746-4282

NIH/National Kidney and Urologic Diseases Information Clearinghouse
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Bethesda, MD 20892-3580
Tel: (800)891-5390

MUMS National Parent-to-Parent Network
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Green Bay, WI 54301-1243
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see

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