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Nephropathy, progressive tubulointerstitial, with cholestatic liver disease

MedGen UID:: 355562
•Concept ID:: C1865831
•: Disease or Syndrome

Synonym:	Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease

Monarch Initiative:	MONDO:0011199
OMIM®:	602114

Clinical features

From HPO

Kidney disorder

MedGen UID:: 9635
•Concept ID:: C0022658
•: Disease or Syndrome

A nonspecific term referring to disease or damage of the kidneys.

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Chronic kidney disease

MedGen UID:: 473458
•Concept ID:: C1561643
•: Disease or Syndrome

Functional anomaly of the kidney persisting for at least three months.

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Abnormal tubulointerstitial morphology

MedGen UID:: 892966
•Concept ID:: C4025732
•: Anatomical Abnormality

An abnormality that involves the tubules and interstitial tissue of the kidney.

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Cholestatic liver disease

MedGen UID:: 163651
•Concept ID:: C0860204
•: Disease or Syndrome

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Elevated circulating hepatic transaminase concentration

MedGen UID:: 338525
•Concept ID:: C1848701
•: Finding

Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

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Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
Abnormality of the digestive system
- Cholestatic liver disease
Abnormality of the genitourinary system

Recent clinical studies

Diagnosis

Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

Gagnadoux MF, Bacri JL, Broyer M, Habib R
Pediatr Nephrol 1989 Jan;3(1):50-5. doi: 10.1007/BF00859626. PMID: 2702088

See all (1)

Prognosis

Familial progressive tubulo-interstitial nephropathy and cholestatic liver disease -- a newly recognized entity?

Neuhaus TJ, Stallmach T, Leumann E, Altorfer J, Braegger CP
Eur J Pediatr 1997 Sep;156(9):723-6. doi: 10.1007/s004310050699. PMID: 9296539

Chronic cholestatic liver disease with associated tubulointerstitial nephropathy in early childhood.

Montini G, Carasi C, Zancan L, Dall'Amico R, Murer L, Zacchello G, Sorino P
Pediatrics 1997 Sep;100(3):E10. doi: 10.1542/peds.100.3.e10. PMID: 9271625

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Clinical prediction guides

Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

Gagnadoux MF, Bacri JL, Broyer M, Habib R
Pediatr Nephrol 1989 Jan;3(1):50-5. doi: 10.1007/BF00859626. PMID: 2702088

See all (1)

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Nephropathy, progressive tubulointerstitial, with cholestatic liver disease

Clinical features

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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