+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Neonatal hepatitis with obstructive jaundice in an SZ heterozygous alpha 1-antitrypsin-deficient boy and destructive lung disease in his SZ mother. A review of the literature



Neonatal hepatitis with obstructive jaundice in an SZ heterozygous alpha 1-antitrypsin-deficient boy and destructive lung disease in his SZ mother. A review of the literature



European Journal of Pediatrics 144(4): 391-394



SZ-Alpha 1-antitrypsin deficiency, leading to severe transient neonatal cholestasis with mild hepatitis is rare. In our patient, intrahepatic bile duct hypoplasia was suspected. Since cholecystography and hepatic scintigraphy failed to reveal intrahepatic bile ducts, a diagnostic surgical liver biopsy was performed. Typical intrahepatocytic PAS-positive granules and a low serum alpha 1-antitrypsin concentration allowed a correct diagnosis of the SZ phenotype. The administration of an elementary diet quickly improved the clinical condition of our patient. Follow-up studies of this case and others will allow a better establishment of prognostic criteria and help in genetic counselling.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 040780926

Download citation: RISBibTeXText

PMID: 3878294


Related references

A role for intermediate, heterozygous alpha 1-antitrypsin deficiency in obstructive lung disease. Chest 98(3): 522-523, 1990

Obstructive airway disease associated with heterozygous alpha-1-antitrypsin deficiency. Journal of Allergy and Clinical Immunology 58(1 Pt 1): 69-75, 1976

Chronic obstructive pulmonary disease and heterozygous alpha-1-antitrypsin deficiency. Annals of Internal Medicine 72(4): 595-596, 1970

The cut-off value of 100 mg/dl is insufficient to detect heterozygous alpha-1 antitrypsin-deficient liver disease patients. Liver International 30(3): 491-492, 2010

Pulmonary branch national heart lung and blood institute bethesda maryland usa alpha 1 antitrypsin deficiency replacement study chronic augmentation of the antineutrophil elastase capacity of the lower respiratory tract of alpha 1 antitrypsin deficient individuals with weekly infusions of alpha 1 antitrypsin. American Review of Respiratory Disease 133(4 Suppl.): A103, 1986

Prolonged jaundice by heterozygous alpha-1-antitrypsin-deficience?. Klinische Wochenschrift 55(23): 1175-1176, 1977

Prolonged jaundice and a heterozygous (PiMZ) alpha 1-antitrypsin deficiency. Acta Medica Iugoslavica 35(2): 125-133, 1981

Experience with replacement therapy in the destructive lung disease associated with severe alpha-1-antitrypsin deficiency. American Review of Respiratory Disease 127(2): S45-S46, 1983

Alpha 2-Macroglobulin in patients with obstructive lung disease, with and without alpha 1-antitrypsin deficiency. Clinica Chimica Acta; International Journal of Clinical Chemistry 128(2-3): 241-248, 1983

Heterozygous alpha-I antitrypsin deficiency as a co-factor in the development of chronic liver disease: a review. Netherlands Journal of Medicine 65(5): 160-166, 2007

Should alpha 1-antitrypsin-deficient patients with emphysema continue to receive alpha 1-antitrypsin after lung transplantation?. Journal of Heart and Lung Transplantation 12(4): 708-709, 1993

Lung carcinoma presenting as an obstructive jaundice: case series with literature review. Journal of Gastrointestinal Cancer 45(Suppl. 1): 66-70, 2014

Lung adenocarcinoma presenting as obstructive jaundice: a case report and review of literature. World Journal of Surgical Oncology 6: 120, 2008

Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. American Review of Respiratory Disease 138(2): 327-336, 1988

The rs361525 polymorphism does not increase production of tumor necrosis factor alpha by monocytes from alpha-1 antitrypsin deficient subjects with chronic obstructive pulmonary disease - a pilot study. Journal of Negative Results in Biomedicine 14: 20, 2015