Relationship between a mild alpha 1 proteinase inhibitor deficiency and respiratory symptoms in a family.

A 34-year-old man with pulmonary emphysema was found to have a mild alpha 1 proteinase inhibitor (alpha 1 PI) deficiency. alpha 1 PI status was investigated in this patient and in 35 members of his family. The alpha 1 PI investigations included alpha 1 PI concentration and phenotype and serum inhibitory capacity for trypsin and pancreatic elastase. Fifteen members of the family had alpha 1 PI concentration and inhibitory capacities below the lower normal limit. Five of these members were characterized by the heterozygous MP phenotype and the 10 others by an apparently homozygous M phenotype, in which the M allele may be associated with another unidentified deficiency allele. Two members of the family had alpha 1 PI concentration and elastase inhibitory capacity below the lower normal limits and trypsin inhibitory capacity within the normal range. They were both characterized by the MP phenotype. Six of these 17 members (three of PI type M and three of PI type MP) showed chronic pulmonary symptoms, whereas among the 19 alpha 1 PI non deficient members, no member had a history of significant pulmonary symptoms.

[Subacute pneumopathy caused by hydrochlorothiazide. Cytologic study of the broncho-alveolar lavage]. / Pneumopathie à l'hydrochlorothiazide d'évolution subaiguë. Etude cytologique du lavage broncho-alvéolaire.

We report a case of diffuse interstitial pulmonary disease in a 73 year old woman treated for moderate hypertension for one year with the combination of hydrochlorothiazide (50 mg/day) and Amiloride (5 mg/day). The bronchoalveolar lavage showed a neutrophilia of 23% and a 5.5% eosinophilia. The absence of any other aetiological factor and the favourable outcome on cessation of the sole medication incriminate the latter as an aetiological agent in this interstitial pneumonitis.