Abstract
Chronic pulmonary disease (CPD) occurs in most individuals with the common α1-antitrypsin (α1AT) deficiency phenotype, PiZZ, and less frequently in heterozygotes (PiMZ; normal = PiMM). A few other variants are associated with lesser degress of deficiency, but their roles in pathogenesis of disease are unclear. For example, the incidence of CPD in PiSS and PiSZ individuals is not known, although Fagerhol has reported that these phenotypes may predispose to CPD. His two patients had asthma and chronic bronchitis rather than emphysema per se.
An 8-yr-old boy with severe asthmatic attacks and chronic in flammatory lung disease was found to have a serum α1AT level of 85 mg/100 ml (31% of nl. mean) and trypsin inhibitory capacity of 0.55 mg/ml. Genetic typing by immunofixation and by antigen-antibody crossed electrophoresis indicated that he was PiSZ. Sweat chlorides and serum IgG are normal; IgA and IgM are borderline. The patient's father is PiMZ; his mother and sister are PiMS. Both parents have mild obstructive changes in their pulmonary dynamics, but are clinically well. The sister is apparently normal.
The clinical progression and prognosis with α1AT variants other than PiMM, MZ, and ZZ are unknown. The relative frequencies of these phenotypes make genetic typing and long-term followup important in order to clarify these question and to ascertain the need for genetic and medical counselling.
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Johnson, A., Gottovi, D., Barnett, T. et al. Chronic pulmonary disease associated with an unusual genetic type of α1-antitrypsin deficiency in childhood. Pediatr Res 5, 427 (1971). https://doi.org/10.1203/00006450-197108000-00235
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DOI: https://doi.org/10.1203/00006450-197108000-00235