nephronophthisis
Sign in to saveAlso known as medullary cystic kidney, medullary cystic disease
Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease. The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form of ciliopathy. Its incidence has been estimated to be 0.9 cases per million people in the United States, and 1 in 50,000 births in Canada.
Key facts
- Medical condition (new).name
- Nephronophthisis
- Medical condition (new).image
- autorecessive.svg
- Medical condition (new).caption
- Nephronophthisis has an autosomal recessive pattern of inheritance.
- Medical condition (new).symptoms
- Polyuria
- Medical condition (new).types
- Infantile, Juvenile and Adult NPH
- Medical condition (new).diagnosis
- Renal ultrasound
- Medical condition (new).treatment
- Hypertension and anemia management
via Wikipedia infobox
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Encyclopedic overview
11 sectionsContents
- Signs and symptoms
- Cause
- Pathophysiology
- Related rare genetic disorders
- Diagnosis
- Types
- Management
- Epidemiology
- References
- Further reading
- External links
Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease. The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form of ciliopathy. Its incidence has been estimated to be 0.9 cases per million people in the United States, and 1 in 50,000 births in Canada.
==Signs and symptoms== Infantile, juvenile, and adolescent forms of nephronophthisis have been identified. Although the range of characterizations is broad, people affected by nephronophthisis typically present with polyuria (production of a large volume of urine), polydipsia (excessive liquid intake), and after several months to years, end-stage kidney disease, a condition necessitating either dialysis or a kidney transplant in order to survive. Some individuals with nephronophthisis also have so-called "extra-renal symptoms" which can include tapetoretinal degeneration, liver problems, oculomotor apraxia, and cone-shaped epiphysis (Saldino-Mainzer syndrome).
Excerpted from Wikipedia’s “nephronophthisis” article, available under the CC BY-SA 4.0 licence.