Epidemiology of alpha1-antitrypsin deficiency in the Netherlands

Dijkman, J. H.; Penders, T. J.; Kramps, J. A.; Sonderkamp, H. J. A.; Broek, W. G. M. van den; Haar, B. G. A. ter

doi:10.1007/bf00287064

Cited by 13 publications

(2 citation statements)

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“…These figures show a progressive de crease of the Pis gene frequency towards [3] described differences in Pi gene frequencies between several regions in the Netherlands. Two discrete areas were detected, one with high S-and low Z gene frequencies and the other with low S-and high Z frequencies.…”

Section: Resultsmentioning

confidence: 96%

α<sub>1</sub>-Antitrypsin Phenotype and Gene Distribution in Southern Italy

Klasen¹

1981

Hum Hered

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Sera from 150 individuals from Southern Italy were screened for α₁-antitrypsin (α₁AT) types. The frequencies of the Pi alleles were compared with those found in Northern Italy and Central/Southern Italy. The Pi^S frequency in our sample (0.02667) was lower than that found in Central/Southern Italy (0.0670) but matched with the result obtained in Northern Italy (0.0297). The gene frequencies for subtypes of M in Northern and Southern Italy are presented.

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Section: Resultsmentioning

confidence: 96%

α<sub>1</sub>-Antitrypsin Phenotype and Gene Distribution in Southern Italy

Klasen¹

1981

Hum Hered

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“…Accurate prognosis as well as genetic counselling for the SZ-phenotypes in particular await more long-term observations of individual cases as well as more prospective population studies. Such observations along with improving therapeutic control may call for newborn screening programs [7,29].…”

Section: Discussionmentioning

confidence: 99%

Neonatal hepatitis with obstructive jaundice in an SZ heterozygous alpha 1-antitrypsin-deficient boy and destructive lung disease in his SZ mother

et al. 1985

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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.

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PI (?1-antitrypsin) subtypes: Frequency of PI*M4 in several populations

Klasen¹,

Bos²,

Simmelink³

1982

Hum Genet

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Sera from different populations (Dutch, Northern and Southern Italians and Spaniards) were screened for PI (alpha 1-antitrypsin) types and subtypes. A polyacrylamide isoelectric focusing method was applied, which consisted of the combined use of an ultra-thin highly cross-linked gel, restricted pH range carrier ampholytes and a separator. This technique enabled easy typing and subtyping of all known PI phenotypes including PI*M subtypes. The frequency of the new PI*M4 allele was lowest of all PI*M alleles (0.0476 in The Netherlands, 0.0371 in Northern Italy, 0.0308 in Southern Italy and 0.0146 in Spain).

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Epidemiology of alpha1-antitrypsin deficiency in the Netherlands

Cited by 13 publications

References 10 publications

α<sub>1</sub>-Antitrypsin Phenotype and Gene Distribution in Southern Italy

α<sub>1</sub>-Antitrypsin Phenotype and Gene Distribution in Southern Italy

Neonatal hepatitis with obstructive jaundice in an SZ heterozygous alpha 1-antitrypsin-deficient boy and destructive lung disease in his SZ mother

PI (?1-antitrypsin) subtypes: Frequency of PI*M4 in several populations

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