Variable morbidity in Alagille syndrome

A review of 43 cases

Ruben Quiros, Marvin E. Ament, Melvin B. Heyman, Martin G. Martin, Philip Rosenthal, Theodore R. Hall, Sue V. McDiarmid, Jorge H. Vargas

Research output: Contribution to journalArticle

103 Citations (Scopus)

Abstract

Background: Alagille syndrome is one of the most common inherited disorders that cause chronic liver disease in children. Early reports suggested a benign course in these patients. Subsequent reports showed significant morbidity and mortality. This study was designed to analyze the long-term clinical course in Alagille syndrome. Methods: The records of children with Alagille syndrome seen during a 20-year period were reviewed. Results: Forty-three patients were identified. Liver disease was diagnosed before 12 months of age in 95%. The frequencies of renal anomalies (50%) and intracranial hemorrhage (12%) were significant. The high incidence of chronic otitis media (35%) has not been reported previously. One patient had a renal transplant. Vascular compromise as a pathologic mechanism for some characteristics of the syndrome is also suggested by the presence of small bowel stenosis and atresia, tracheal and bronchial stenosis, renal artery stenosis, middle aortic syndrome, and avascular necrosis of the humeral and femoral heads. Twenty (47%) patients underwent liver transplantation. Five of six who underwent Kasai procedure required liver transplantation. Twelve died (28%), five after liver transplantation. One patient died of intracranial bleeding. Sixteen (37%) without liver transplantation and 15 (35%) who underwent liver transplantation are alive. Conclusions: Some patients with early-onset and more severe liver disease can benefit from liver transplantation. Careful and complete assessment should be made of infants with a cholestatic syndrome, to avoid misdiagnosis and unnecessary Kasai procedures. Our observation of vascular compromise in various organ systems suggests that notch signaling pathway defects affect angiogenesis in Alagille syndrome. (C) 1999 Lippincott Williams and Wilkins, Inc.

Original languageEnglish (US)
Pages (from-to)431-437
Number of pages7
JournalJournal of pediatric gastroenterology and nutrition
Volume29
Issue number4
DOIs
StatePublished - Oct 1 1999

Fingerprint

Alagille Syndrome
liver transplant
Liver Transplantation
morbidity
Morbidity
liver diseases
Liver Diseases
blood vessels
hemorrhage
Blood Vessels
kidneys
Femur Head Necrosis
Tracheal Stenosis
Humeral Head
Kidney
Unnecessary Procedures
otitis media
kidney transplant
Renal Artery Obstruction
Intracranial Hemorrhages

Keywords

  • Cholestasis
  • Intracranial bleeding
  • Liver transplantation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Gastroenterology

Cite this

Quiros, R., Ament, M. E., Heyman, M. B., Martin, M. G., Rosenthal, P., Hall, T. R., ... Vargas, J. H. (1999). Variable morbidity in Alagille syndrome: A review of 43 cases. Journal of pediatric gastroenterology and nutrition, 29(4), 431-437. https://doi.org/10.1097/00005176-199910000-00011

Variable morbidity in Alagille syndrome : A review of 43 cases. / Quiros, Ruben; Ament, Marvin E.; Heyman, Melvin B.; Martin, Martin G.; Rosenthal, Philip; Hall, Theodore R.; McDiarmid, Sue V.; Vargas, Jorge H.

In: Journal of pediatric gastroenterology and nutrition, Vol. 29, No. 4, 01.10.1999, p. 431-437.

Research output: Contribution to journalArticle

Quiros, R, Ament, ME, Heyman, MB, Martin, MG, Rosenthal, P, Hall, TR, McDiarmid, SV & Vargas, JH 1999, 'Variable morbidity in Alagille syndrome: A review of 43 cases', Journal of pediatric gastroenterology and nutrition, vol. 29, no. 4, pp. 431-437. https://doi.org/10.1097/00005176-199910000-00011
Quiros, Ruben ; Ament, Marvin E. ; Heyman, Melvin B. ; Martin, Martin G. ; Rosenthal, Philip ; Hall, Theodore R. ; McDiarmid, Sue V. ; Vargas, Jorge H. / Variable morbidity in Alagille syndrome : A review of 43 cases. In: Journal of pediatric gastroenterology and nutrition. 1999 ; Vol. 29, No. 4. pp. 431-437.
@article{84cafd02a24c4e22891aeb0bf1182a85,
title = "Variable morbidity in Alagille syndrome: A review of 43 cases",
abstract = "Background: Alagille syndrome is one of the most common inherited disorders that cause chronic liver disease in children. Early reports suggested a benign course in these patients. Subsequent reports showed significant morbidity and mortality. This study was designed to analyze the long-term clinical course in Alagille syndrome. Methods: The records of children with Alagille syndrome seen during a 20-year period were reviewed. Results: Forty-three patients were identified. Liver disease was diagnosed before 12 months of age in 95{\%}. The frequencies of renal anomalies (50{\%}) and intracranial hemorrhage (12{\%}) were significant. The high incidence of chronic otitis media (35{\%}) has not been reported previously. One patient had a renal transplant. Vascular compromise as a pathologic mechanism for some characteristics of the syndrome is also suggested by the presence of small bowel stenosis and atresia, tracheal and bronchial stenosis, renal artery stenosis, middle aortic syndrome, and avascular necrosis of the humeral and femoral heads. Twenty (47{\%}) patients underwent liver transplantation. Five of six who underwent Kasai procedure required liver transplantation. Twelve died (28{\%}), five after liver transplantation. One patient died of intracranial bleeding. Sixteen (37{\%}) without liver transplantation and 15 (35{\%}) who underwent liver transplantation are alive. Conclusions: Some patients with early-onset and more severe liver disease can benefit from liver transplantation. Careful and complete assessment should be made of infants with a cholestatic syndrome, to avoid misdiagnosis and unnecessary Kasai procedures. Our observation of vascular compromise in various organ systems suggests that notch signaling pathway defects affect angiogenesis in Alagille syndrome. (C) 1999 Lippincott Williams and Wilkins, Inc.",
keywords = "Cholestasis, Intracranial bleeding, Liver transplantation",
author = "Ruben Quiros and Ament, {Marvin E.} and Heyman, {Melvin B.} and Martin, {Martin G.} and Philip Rosenthal and Hall, {Theodore R.} and McDiarmid, {Sue V.} and Vargas, {Jorge H.}",
year = "1999",
month = "10",
day = "1",
doi = "10.1097/00005176-199910000-00011",
language = "English (US)",
volume = "29",
pages = "431--437",
journal = "Journal of Pediatric Gastroenterology and Nutrition",
issn = "0277-2116",
publisher = "Lippincott Williams and Wilkins",
number = "4",

}

TY - JOUR

T1 - Variable morbidity in Alagille syndrome

T2 - A review of 43 cases

AU - Quiros, Ruben

AU - Ament, Marvin E.

AU - Heyman, Melvin B.

AU - Martin, Martin G.

AU - Rosenthal, Philip

AU - Hall, Theodore R.

AU - McDiarmid, Sue V.

AU - Vargas, Jorge H.

PY - 1999/10/1

Y1 - 1999/10/1

N2 - Background: Alagille syndrome is one of the most common inherited disorders that cause chronic liver disease in children. Early reports suggested a benign course in these patients. Subsequent reports showed significant morbidity and mortality. This study was designed to analyze the long-term clinical course in Alagille syndrome. Methods: The records of children with Alagille syndrome seen during a 20-year period were reviewed. Results: Forty-three patients were identified. Liver disease was diagnosed before 12 months of age in 95%. The frequencies of renal anomalies (50%) and intracranial hemorrhage (12%) were significant. The high incidence of chronic otitis media (35%) has not been reported previously. One patient had a renal transplant. Vascular compromise as a pathologic mechanism for some characteristics of the syndrome is also suggested by the presence of small bowel stenosis and atresia, tracheal and bronchial stenosis, renal artery stenosis, middle aortic syndrome, and avascular necrosis of the humeral and femoral heads. Twenty (47%) patients underwent liver transplantation. Five of six who underwent Kasai procedure required liver transplantation. Twelve died (28%), five after liver transplantation. One patient died of intracranial bleeding. Sixteen (37%) without liver transplantation and 15 (35%) who underwent liver transplantation are alive. Conclusions: Some patients with early-onset and more severe liver disease can benefit from liver transplantation. Careful and complete assessment should be made of infants with a cholestatic syndrome, to avoid misdiagnosis and unnecessary Kasai procedures. Our observation of vascular compromise in various organ systems suggests that notch signaling pathway defects affect angiogenesis in Alagille syndrome. (C) 1999 Lippincott Williams and Wilkins, Inc.

AB - Background: Alagille syndrome is one of the most common inherited disorders that cause chronic liver disease in children. Early reports suggested a benign course in these patients. Subsequent reports showed significant morbidity and mortality. This study was designed to analyze the long-term clinical course in Alagille syndrome. Methods: The records of children with Alagille syndrome seen during a 20-year period were reviewed. Results: Forty-three patients were identified. Liver disease was diagnosed before 12 months of age in 95%. The frequencies of renal anomalies (50%) and intracranial hemorrhage (12%) were significant. The high incidence of chronic otitis media (35%) has not been reported previously. One patient had a renal transplant. Vascular compromise as a pathologic mechanism for some characteristics of the syndrome is also suggested by the presence of small bowel stenosis and atresia, tracheal and bronchial stenosis, renal artery stenosis, middle aortic syndrome, and avascular necrosis of the humeral and femoral heads. Twenty (47%) patients underwent liver transplantation. Five of six who underwent Kasai procedure required liver transplantation. Twelve died (28%), five after liver transplantation. One patient died of intracranial bleeding. Sixteen (37%) without liver transplantation and 15 (35%) who underwent liver transplantation are alive. Conclusions: Some patients with early-onset and more severe liver disease can benefit from liver transplantation. Careful and complete assessment should be made of infants with a cholestatic syndrome, to avoid misdiagnosis and unnecessary Kasai procedures. Our observation of vascular compromise in various organ systems suggests that notch signaling pathway defects affect angiogenesis in Alagille syndrome. (C) 1999 Lippincott Williams and Wilkins, Inc.

KW - Cholestasis

KW - Intracranial bleeding

KW - Liver transplantation

UR - http://www.scopus.com/inward/record.url?scp=0033512356&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033512356&partnerID=8YFLogxK

U2 - 10.1097/00005176-199910000-00011

DO - 10.1097/00005176-199910000-00011

M3 - Article

VL - 29

SP - 431

EP - 437

JO - Journal of Pediatric Gastroenterology and Nutrition

JF - Journal of Pediatric Gastroenterology and Nutrition

SN - 0277-2116

IS - 4

ER -