Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Medullary Cystic Kidney Disease/Nephronophthisis


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
    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
  • 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 #: 914-428-7100
    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



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 http://www.rarediseases.org/search/rdblist.html