-transparent.png){kind=logo}
An infant with alpha1-antitrypsin (alpha1-AT) deficiency PiSZ presented with liver cirrhosis and showed clinical and laboratory evidence of renal disease when hepatic decompensation developed, shortly before death at 12 months of age. Low serum levels of alpha1-AT were only demonstrated late in the disease. SZ phenotype was proved by starch gel electrophoresis. Post-mortem pathological studies revealed severe hepatic cirrhosis with intracytoplasmic inclusion of alpha1-AT and membranous glomerulonephritis with deposits of complement and immunoglobulins but without the presence of alpha1-AT. The present case suggests the importance of studying Pi phenotypes and serum levels of alpha1-AT in all cases of idiopathic cirrhosis or renal disease in infancy.
J Rodriguez-Soriano, and
I Fidalgo, and
C Camarero, and
A Vallo, and
R Oliveros
June 2005,
Clinical nephrology,
J Rodriguez-Soriano, and
I Fidalgo, and
C Camarero, and
A Vallo, and
R Oliveros
February 1976,
Pediatrics,
J Rodriguez-Soriano, and
I Fidalgo, and
C Camarero, and
A Vallo, and
R Oliveros
April 1969,
The American journal of medicine,
J Rodriguez-Soriano, and
I Fidalgo, and
C Camarero, and
A Vallo, and
R Oliveros
January 2002,
Acta paediatrica (Oslo, Norway : 1992),
J Rodriguez-Soriano, and
I Fidalgo, and
C Camarero, and
A Vallo, and
R Oliveros
February 2005,
Gastroenterologie clinique et biologique,
J Rodriguez-Soriano, and
I Fidalgo, and
C Camarero, and
A Vallo, and
R Oliveros
June 1973,
Danish medical bulletin,
J Rodriguez-Soriano, and
I Fidalgo, and
C Camarero, and
A Vallo, and
R Oliveros
February 2004,
Thorax,
J Rodriguez-Soriano, and
I Fidalgo, and
C Camarero, and
A Vallo, and
R Oliveros
April 1977,
Chest,
J Rodriguez-Soriano, and
I Fidalgo, and
C Camarero, and
A Vallo, and
R Oliveros
July 2009,
The European respiratory journal,
J Rodriguez-Soriano, and
I Fidalgo, and
C Camarero, and
A Vallo, and
R Oliveros
November 2004,
Thorax,
