- PMID
- Gene Name
- Molecular Event
- Function in UC
- 22541062
- SERPINA1
- downregulation
- Diagnosis; Pathogenesis
- Method
- alpha-1-antitrypsin deficiency
- Summary
- Fifteen percent of patients with alpha-1-antitrypsin deficiency develop a Neonatal jaundice.
- Other genetic liver diseases in children. Clinics and research in hepatology and gastroenter, 2012 Jun [Go to PubMed]
- Wilson disease is rare but proteiform, and should be suspected in any child with liver disease and older than 3 years of age. The treatment is very efficient, and must be taken life-long. Fifteen percent of patients with alpha-1-antitrypsin deficiency develop a neonatal jaundice, and 3% a cirrhosis in childhood. There is no specific treatment except liver transplantation. Five percent of cystic fibrosis patients develop a cirrhosis, with a very slow progression. Milder abnormalities are frequent, as well as biliary stones. Liver disease in ciliopathies may be a congenital hepatic fibrosis, with risks of portal hypertension and cholangitis, or a more variable biliary disease. Gilbert disease is frequent and benign. Crigler-Najjar syndrome is rare, severe, and may be an indication for liver or liver-cell transplantation.
- 304505
- SERPINA1
- downregulation
- Unclassified
- Method
- NA
- Summary
- It seems to the possible that one of the reasons for the not yet explained cases of prolonged jaundice of the newborns period can be found in the high frequency of homozygous or heterozygous genotype carriers of Pi-system.
- [Prolonged jaundice by heterozygous alpha-1-antitrypsin-deficience? (author's transl)]. Klinische Wochenschrift, 1977 Dec 1 [Go to PubMed]
- Of 28 newborns with prolonged jaundice and lowered or subnormal values of alpha-1-antitrypsin in the serum six patients were found to have a Pi-type MZ, three a Pi-type MS and one patient a Pi-type MP. One of the newborns had Pi-type SZ (double heterozygous), one infant was a homozygous carrier of the Pi-type S. It seems to the possible that one of the reasons for the not yet explained cases of prolonged jaundice of the newborns period can be found in the high frequency of homozygous or heterozygous genotype carriers of Pi-system.
2 pubmed articles have reported SERPINA1 downregulation associated with Neonatal Jaundice.