A congenital factor in bronchiectasis.

The majority of sufferers from bronchiectasis state that their symptoms began in childhood. There is good evidence for believing that the disease is usually of acquired origin, but in a few cases the presence of other developmental anomalies favours the view that there may also be a congenital factor. Sauerbruch (1934) considered bronchiectasis was due to mechanical crowding, particularly of the left bronchial tree, during development and that some dilatation of middle-sized and large bronchi was present at birth, if the crowding and stricture occurred in late foetal life. Bronchial infection, secondary to measles, scarlet fever, pneumonia or pertussis, superimposed on the previous developmental condition, constituted bronchiectasis as seen clinically. He maintained that the absence of adhesions about bronchiectatic lobes, the normal appearance of the surrounding parenchyma, the absence of a history of pneumonia, and the irregularity of the layers of the bronchial wall were in favour of a congenital origin in this disease. Engel (1947) suggested the possibility of a congenital weakness of the bronchial walls in bronchiectasis in childhood. In Engel's view this inborn constitutional weakness is probably present in the condition known as congenital laryngeal stridor, and is also a factor in pulmonary collapse because of the individual susceptibility in the latter, which cannot be related to the viscosity of bronchial mucus. Kartagener (1933) has deduced that bronchiectasis is mainly congenital from his observation that an extraordinary number of cases of complete transposition of the viscera also suffer from bronchiectasis. He quoted the figure of 25 %; Adams and Churchill (1937) found a similar proportion, but Olsen (1943) gave a lower figure, 16 5 %. The frequency rate of occurrence of situs inversus totalis in the general population is: At necropsy.....1 in 5,000 (Kartagener, 1933). Clinically ....... 1 in 10,099 (Adams and Churchill, 1937). Massachusetts. 1 in 19,500 (Cockayne, 1938). England. By radiology....l in 1,400 (Le Wald, 1925). The appearance then of an uncommon condition, such as bronchiectasis, in 25% of cases with a rare anomaly like complete situs inversus suggests that there must be some definite relationship. Adams and Churchill are of the opinion that there are two types of individuals with transposition of viscera, perfectly normal mutants and monsters in whom other stigmata of malformation can be found, of which bronchiectasis is one. Olsen (1943), in 85 cases of dextrocardia, found 14 with bronchiectasis and 11 of the 85 patients had other congenital defects. Eliman (1935) described a case of situs inversus totalis, in which there was congenital pulmonary stenosis and physical signs of a cavity at the apex of the left lung. Certainly in the case of partial situs inversus congenital malformations are very common, and Maude Abbott (1936) found congenital heart disease in almost all her cases. Kartagener and Horlacher (1935) reported a case in the literature with partial situs inversus and bronchiectasis. Cockayne (1938) from an extensive study of the literature and his own cases produced strong evidence that transposition of the viscera was a rare recessive character. If situs inversus totalis is a dominant or a recessive character it should affect both members of a pair of monozygotic twins or neither. Araki (1935) has recorded transposition in a pair of monozygotic twins. If heterozygotes for a recessive character marry there should be a proportion of one affected to three normal children, and in published cases the ratio works out at 1 to 3-1. The proportion of consanguineous marriages should be high. Cockayne found that there were 11 % of first cousin marriages in the cases he studied. A hereditary or familial influence has seldom been found in bronchiectasis, though Wiese (1927) noted that it was usually the younger child in a family who was affected, and Hinshaw and Schmidt (1944) and Pastore and OLsen (1941) recorded similar bronchiectasis in identical twins. Torgersen (1946) found tanposition of viscera in three of the five children of one Norwegian family. All three had a