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Adolescent nephronophthisis(NPHP3)

MedGen UID:
346809
Concept ID:
C1858392
Disease or Syndrome
Synonyms: Nephronophthisis 3; NPHP3
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
SNOMED CT: Adolescent nephronophthisis (444749006)
 
Gene (location): NPHP3 (3q22.1)
OMIM®: 604387

Definition

Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.
[from GHR]

Clinical features

Enuresis
MedGen UID:
8649
Concept ID:
C0014394
Sign or Symptom
Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Renal failure syndrome
MedGen UID:
11177
Concept ID:
C0035078
Disease or Syndrome
Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure. If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Nephronophthisis
MedGen UID:
146912
Concept ID:
C0687120
Disease or Syndrome
Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.
Tubular atrophy
MedGen UID:
388054
Concept ID:
C1858395
Finding
The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
Renal corticomedullary cysts
MedGen UID:
409631
Concept ID:
C1968619
Disease or Syndrome
The presence of multiple cysts at the border between the renal cortex and medulla.
Tubulointerstitial fibrosis
MedGen UID:
370652
Concept ID:
C1969372
Pathologic Function
Fibrosis that involves the tubules and interstitial tissue of the kidney.
Polydipsia
MedGen UID:
43214
Concept ID:
C0085602
Sign or Symptom
Excessive thirst manifested by excessive fluid intake.
Hepatic fibrosis
MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
The presence of fibrosis of the liver tissue.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.

Recent clinical studies

Etiology

Fiskerstrand T, Houge G, Sund S, Scheie D, Leh S, Boman H, Knappskog PM
J Mol Diagn 2010 Jan;12(1):125-31. Epub 2009 Dec 10 doi: 10.2353/jmoldx.2010.090033. [Epub ahead of print] PMID: 20007846Free PMC Article
Tory K, Rousset-Rouvière C, Gubler MC, Morinière V, Pawtowski A, Becker C, Guyot C, Gié S, Frishberg Y, Nivet H, Deschênes G, Cochat P, Gagnadoux MF, Saunier S, Antignac C, Salomon R
Kidney Int 2009 Apr;75(8):839-47. Epub 2009 Jan 28 doi: 10.1038/ki.2008.662. [Epub ahead of print] PMID: 19177160
Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H
Nat Genet 2003 Aug;34(4):455-9. doi: 10.1038/ng1216. PMID: 12872122
Omran H, Häffner K, Burth S, Ala-Mello S, Antignac C, Hildebrandt F
Nephrol Dial Transplant 2001 Apr;16(4):755-8. PMID: 11274269
Omran H, Häffner K, Burth S, Fernandez C, Fargier B, Villaquiran A, Nothwang HG, Schnittger S, Lehrach H, Woo D, Brandis M, Sudbrak R, Hildebrandt F
J Am Soc Nephrol 2001 Jan;12(1):107-13. PMID: 11134256

Diagnosis

Komatsuda A, Masai R, Wakui H, Iwamoto K, Aiba N, Ohtani H, Satoh K, Haseyama T, Imai H, Nakamoto Y, Sawada K
Clin Nephrol 2006 May;65(5):364-9. PMID: 16724659
Omran H, Fernandez C, Jung M, Häffner K, Fargier B, Villaquiran A, Waldherr R, Gretz N, Brandis M, Rüschendorf F, Reis A, Hildebrandt F
Am J Hum Genet 2000 Jan;66(1):118-27. doi: 10.1086/302705. PMID: 10631142Free PMC Article

Clinical prediction guides

Yamaguchi T, Lysecki C, Reid A, Nagao S, Aukema HM
Lipids 2014 Jan;49(1):39-47. Epub 2013 Nov 1 doi: 10.1007/s11745-013-3859-2. [Epub ahead of print] PMID: 24178445
Fiskerstrand T, Houge G, Sund S, Scheie D, Leh S, Boman H, Knappskog PM
J Mol Diagn 2010 Jan;12(1):125-31. Epub 2009 Dec 10 doi: 10.2353/jmoldx.2010.090033. [Epub ahead of print] PMID: 20007846Free PMC Article
Omran H, Sasmaz G, Häffner K, Volz A, Olbrich H, Melkaoui R, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F
J Am Soc Nephrol 2002 Jan;13(1):75-9. PMID: 11752023
Omran H, Häffner K, Burth S, Fernandez C, Fargier B, Villaquiran A, Nothwang HG, Schnittger S, Lehrach H, Woo D, Brandis M, Sudbrak R, Hildebrandt F
J Am Soc Nephrol 2001 Jan;12(1):107-13. PMID: 11134256
Omran H, Fernandez C, Jung M, Häffner K, Fargier B, Villaquiran A, Waldherr R, Gretz N, Brandis M, Rüschendorf F, Reis A, Hildebrandt F
Am J Hum Genet 2000 Jan;66(1):118-27. doi: 10.1086/302705. PMID: 10631142Free PMC Article

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