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Jaundice, familial obstructive, of infancy

MedGen UID:
326992
•Concept ID:
C1839927
•
Disease or Syndrome
Synonym: Jaundice, Familial Obstructive, of Infancy
 
Monarch Initiative: MONDO:0010634
OMIM®: 308600

Clinical features

From HPO
Jaundice
MedGen UID:
43987
•Concept ID:
C0022346
•
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
See: Feature record | Search on this feature
Neonatal hyperbilirubinemia
MedGen UID:
208991
•Concept ID:
C0857007
•
Disease or Syndrome
A type of hyperbilirubinemia with neonatal onset.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Cholelithiasis in infancy: a study of 40 cases.
Debray D, Pariente D, Gauthier F, Myara A, Bernard O
J Pediatr 1993 Mar;122(3):385-91. doi: 10.1016/s0022-3476(05)83421-3. PMID: 8441092

Diagnosis

PFIC type III in infant presenting as acute liver cell failure.
Zaki SA, Shanbag P, Amarapurkar A
Indian J Pathol Microbiol 2010 Apr-Jun;53(2):334-6. doi: 10.4103/0377-4929.64326. PMID: 20551550
Synopsis report from the pilot USA Kernicterus Registry.
Bhutani VK, Johnson L
J Perinatol 2009 Feb;29 Suppl 1:S4-7. doi: 10.1038/jp.2008.210. PMID: 19177058
Cholelithiasis in infancy: a study of 40 cases.
Debray D, Pariente D, Gauthier F, Myara A, Bernard O
J Pediatr 1993 Mar;122(3):385-91. doi: 10.1016/s0022-3476(05)83421-3. PMID: 8441092
Progressive intrahepatic cholestasis of infancy and childhood. A clinicopathological study of patient surviving to the age of 18 years.
Jones EA, Rabin L, Buckley CH, Webster GK, Owens D
Gastroenterology 1976 Oct;71(4):675-82. PMID: 955355

Prognosis

Cholelithiasis in infancy: a study of 40 cases.
Debray D, Pariente D, Gauthier F, Myara A, Bernard O
J Pediatr 1993 Mar;122(3):385-91. doi: 10.1016/s0022-3476(05)83421-3. PMID: 8441092
Familial cholestasis with gallstone, ataxia and visual disturbance.
Tazawa Y, Konno T
Tohoku J Exp Med 1982 Jun;137(2):137-44. doi: 10.1620/tjem.137.137. PMID: 7112542
Progressive intrahepatic cholestasis of infancy and childhood. A clinicopathological study of patient surviving to the age of 18 years.
Jones EA, Rabin L, Buckley CH, Webster GK, Owens D
Gastroenterology 1976 Oct;71(4):675-82. PMID: 955355

Clinical prediction guides

Cholelithiasis in infancy: a study of 40 cases.
Debray D, Pariente D, Gauthier F, Myara A, Bernard O
J Pediatr 1993 Mar;122(3):385-91. doi: 10.1016/s0022-3476(05)83421-3. PMID: 8441092
Progressive intrahepatic cholestasis of infancy and childhood. A clinicopathological study of patient surviving to the age of 18 years.
Jones EA, Rabin L, Buckley CH, Webster GK, Owens D
Gastroenterology 1976 Oct;71(4):675-82. PMID: 955355

Supplemental Content

Table of contents

    Clinical resources

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    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Clinical Guideline (CG98), Jaundice in newborn babies under 28 days, 2023

    Consumer resources

    Reviews

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