A proband homozygous for the PiZ allele of the alpha-1-antitrypsin gene was found to be a heterozygous carrier of the additional nucleotide substitution (C-T) within the intron IV-exon V junction (position 9955 in intron IV, 3 bp upstream of its 3'-splice site). This mutation was not found in DNA from either the PiZ heterozygous parents or the PiZ homozygous brother of proband.

Alleles↗

PubMedDate not supplied

Alpha-1-antitrypsin subtypes in Polish newborns.

Alpha-1-antitrypsin phenotypes of umbilical cord serum from 741 Polish newborns were studied by isoelectric focusing. The frequencies of the PI alleles were: PI*M1 = 0.7199, PI*M2 = 0.1613, PI*M3 = 0.0965, PI*S = 0.0094, PI*Z = 0.0067, and PI*Var(F,I,L) = 0.0060. The data obtained for Poland were compared to those for other European populations.

Fetal Blood↗

PubMedDate not supplied

Procollagen type III peptide in the assessment of liver fibrosis in children with congenital alpha-1-antitrypsin deficiency.

In 31 children with congenital alpha 1-antitrypsin deficiency the concentration of procollagen type III peptide was determined in a trial establishing liver fibrosis degree and monitoring of fibrosis progression. No correlation was found between the degree liver fibrosis determined by histological examination and the serum concentration of procollagen type III peptide. The concentration of procollagen type III peptide was higher with coexistent cholestasis and in case of inflammatory processes outside the liver (pneumonia). In progressing cirrhosis with inflammatory reaction the concentration was higher than in advanced cirrhosis and non-inflammatory liver fibrosis.

Adolescent↗

PubMedDate not supplied

[Delayed puberty in an 18-year-old female patient with late diagnosis of celiac disease].

A case of a 18-year female patient is presented. The patient suffered from certain symptoms of malabsorption syndrome. She was also retarded sexually. Celiac disease was diagnosed according to ESPGAN criteria. Gluten -free diet produced body weight increase, pain relief, improved well-being and normal menstruation.

Adolescent↗

PubMedDate not supplied

["Munchausen syndrome by proxy" as an example of diagnostic error].

A case of the girl who underwent multiple hospitalizations is presented. Gastrointestinal disorders were seen in the infancy together with skin rash of allergic type, hypoglycaemia without any clear reason in the fourth year of age, and polyuria with hyponatremia and hypokalemia since the sixth year of age. Mother's lack of concern was unexplainable in view of the deteriorating child's health. Samples of the urine and faeces supplied by the mother have shown the laboratory findings suggesting that potassium chloride was added to the faeces and natrium hydrocarbonate--to the urine. Urine collected during polyuria contained large quantities of furosemide. Long-term follow-up, numerous examinations and performed tests have led to the diagnosis of the particular form of the ill-treated child syndrome, so-called "Munchausenn by proxy" syndrome.

Adult↗