Hepatic Manifestations of Jeune Syndrome (Asphyxiating Thoracic Dystrophy)
| Autor: | Lisa Yerian, Lynda Brady, John Hart |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Pathology
medicine.medical_specialty Hepatology business.industry Liver Diseases Autopsy Syndrome Thorax Osteochondrodysplasias medicine.disease Transplantation Pathogenesis Asphyxia Liver disease medicine.anatomical_structure Dysplasia Humans Medicine Portal hypertension Respiratory system business Pancreas |
| Zdroj: | Seminars in Liver Disease. 23:195-200 |
| ISSN: | 1098-8971 0272-8087 |
| DOI: | 10.1055/s-2003-39950 |
| Popis: | Asphyxiating thoracic dystrophy, or Jeune syndrome, is an autosomal recessive skeletal dysplasia with multiorgan involvement. Most patients develop progressive respiratory insufficiency related to the abnormally small thorax and renal insufficiency. Other clinical manifestations include cystic lesions of the pancreas and retinal abnormalities. Hepatic abnormalities have been described both clinically and at autopsy, but the pathogenesis of the liver disease is not clear. A patient with Jeune syndrome developed complications because of progressive portal hypertension necessitating transplantation. We present a discussion of the gross and histopathologic findings in the explanted liver, along with a review of the pathology of liver disease in Jeune syndrome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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