The chest radiographs and comput tomographic (CT) scans of seven patients with homozygous proteinase inhibitor phenotype Z (PiZZ) [alpha.

The chest radiographs and comput tomographic (CT) scans of seven patients with homozygous proteinase inhibitor phenotype Z (PiZZ) [alpha.sub.1]-antitrypsin deficiency were reviewed. All patients do not include one showed severe emphysema with or without bullous change. Bronchiectasis was lay opened in three patients by CT hovel only in two patients according to chest radiography. A young patient unraveled bronchiectasis before symptomatic emphysema. We stres that patients with PiZZ are susceptible to bronchiectasis, and the widespread use of CT should reveal its genuine incidence which might not be as cheap as generally believed.

(Chest 1993; 104:1384-86 PiZZ = proteinase inhibitor phenotype Z

It is generally believed that patients with [alpha.sub.1]-antitrypsin deficiency sustain from pulmonary emphysema but rarely from bronchiectasis.[1] Indeed, principally individuals who are homozygous proteinase inhibitor phenotype Z (PiZZ) expand severe panlobular emphysema, predominately at the lung bases, in the third and fourth decades of life.[1,2] The cardinal clinical symptom is progressive dyspnea with minimal cough a certain number of individuals, particularly those who mist also develop chronic bronchitis. [Alpha.sub.1]-antitrypsin deficiency, however, is considered to be a rare cause of bronchiectasis.[1] During the past 5 years, we have contested seven patients with PiZZ phenotype. All of them complained of progressive dyspnea. Four of them also be affected byed from chronic cough with sputum production. Bronchiectasis was descryed in three patients. We would like, therefore, to stres that patients with PiZZ are also make liable to development of bronchiectasis. Its incidence is not as reasonable as commonly thought due to the use of improved roentgenographic technology, in the same state [i]or[/i] condition as CT, for its detection and better health care for prolongation of life. Since six of the seven patients were forward the waiting list for lung transplantation, the detection and localization of bronchiectasis are important for pretransplant evaluation, especially in making the decision as to which lung to replace.

Methods

Patients

The clinical symptoms and chest radiographic findings of seven patients with [alpha.sub.1]-antitrypsin deficiency were summarized in Table 1 The patients were examined at the University of Alabama Hospital, Birmingham, during the last 5 years. The patients, four women and three men were all adults ranging in age from 21 to,56 years. The initial diagnosis of [alpha.sub.1]-antitrypsin deficiency, was made by means of measurement of its concentration in serum through either electrophoresis or nephelometry.[3] The serum [alpha.sub.1]-antitrypsin of the same heights of these seven patients were les than 10 to 15 percent of the normal and frequently near zero. The establishment of diagnosis was followed through phenotyping by isoelectric focusing[4] which indicated PiZZ phenotype in all patients. Progressive dyspnea was the predominant symptom in all patients. Three patients (cases 1 2 and 6) had minimal cough while the remaining four patients sustained also from chronic bronchitis as defined by way of cough with expectation for at least 3 month of the year for more than pair consecutive years. These four patients with chronic bronchitis all had a history of tobacco smoking. Case 6 contracted adenoviral pneumonia at age 1 1/2 years. Haemophilus influenzae pneumonia at age 12 and expanded progressive dyspnea only in newly come years. Cystic fibrosis was rul disclosed in this young patient on negative sweat test. None of the seven make liables had evidence of immunoglobulin deficiency.

Each patient had a number of conventional chest radiographic studies. The CT scans were performed with a scanner (GE 9800 Philips TX60 or Picker 1200) at continuous 10-mm thickness with a 5- scan time. Additional high-resolution scans were obtained with 15-mm collimation and high-spatial-frequency reconstruction algorithm at rareed levels (aortic arch, carina, and diaphragm) in three patients.

Results

the two conventional radiography add CT showed hyperinflation of the lung in all seven patients. like emphysematous changes were severe, especially in the lower lobes, in all patients exclude case 3 who showed solitary mild emphysema. Bullous change was also noted in cases 5 and 6 In addition, chest radiography in case 5 showed bilateral cystic or saccular bronchiectasis which was confirmed on CT (Fig 1). ID case 6 the chest radiograph also showed cystic bronchiectasis in the left lung which was also confirmed by dint of CT (Fig 2). The milder cylindrical bronchiectasis in the right middle and lower lobes was demonstrated in succession CT (Fig 3) but not onward the conventional radiograph. In case 7 bronchiectasis was also demonstrated simply on CT but not forward chest radiographs.

Discussion

[Alpha.sub.1]-antitrypsin is a 52-kilodalton glycoprotein with 12 percent carbohydrate, synthesized and coverted by the hepatocytes, has a high plasma concentration, exceedingly broad range of antiprotease (or antielastase) activity, and is an acute phase reactant.[5] The [alpha.sub.1]-antitrypsin gene has been mapped to the distal portion of the lengthy arm of chromosome 14.[6] The sum of two units [alpha.sub.1]-antitrypsin genes are codominantly give vent toed and together define the [alpha.sub.1]-antitrypsin even in serum. Most common [alpha.sub.1]-antitrypsin alleles are classified as M-type There are more than 75 known pleomorphic alleles of which at least 20 can cause a clinically relevant deficiency state.[1,6,7] The chiefly common and serious "deficiency" mutation is Z as the eventuate of point mutation by replacement of Glu-342 in exon V by means of Lys.[8] Such substitution of homozygous PiZZ patients leads to aggregation of [alpha.sub.1]-antitrypsin in the shapeless endoplasmic reticulum and impairment of its secretion into the circulation.

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