Cystic fibrosis and congenital agenesis of the vas deferens, antisperm antibodies and CF-genotype.

Antisperm antibodies are formed as a result of vasal and epididymal obstruction. Fourteen males of different ages (pre-, peri- and post-pubertal) with bilateral congenital vasal agenesis and epididymal obstruction secondary to cystic fibrosis (CF), and seven men with congenital bilateral aplasia of the vas deferens (CBAVD) were evaluated with regard to both the presence and levels of serum antisperm antibodies, and the CF-genotype. While IgA and IgG were not detected among pre- and peri-pubertal CF patients, 4 out of 10 (40%) exhibited IgM binding to sperm tail-tip. Post-pubertal CF patients showed high antisperm antibody (ASA) levels in 3 of the 4 males (75%) evaluated for the three isotypes assayed. ASA were found in 5 of 7 CBAVD patients (71%); IgG (n = 3) and IgM (n = 4) were found to be the predominant isotypes bound to sperm tail-tip. CF-genotype analysis revealed two pre-pubertal patients with the DeltaF508/DeltaF508 CF-genotype and a positive ASA response, thus suggesting an earlier or more severe blockage. In addition, the two CBAVD patients found to have a ?/? CF-genotype on the initial screening did not have ASA. The altered antigenicity of sperm associated with initiation of spermatogenesis appears to modify the antisperm antibody isotypes. Further studies on a larger number of patients may allow for a better understanding of the ASA response, as well as a better understanding of a possible phenotype/genotype association between the CF-genotype and the immunologic response.

Pulmonary manifestations of HIV infection in children.

We retrospectively reviewed the spectrum, course, and outcome of pulmonary diseases in 66 children with AIDS, hospitalized between 1982 and 1988, prior to the use of zidovudine. Fifty-two of the 66 (79%) patients developed pulmonary problems. In fifty-two percent of all patients, a pulmonary problem was the first symptom of HIV infection. The most common respiratory illness requiring hospitalization was an episode of respiratory distress with normal PaO2 and unchanged X-ray with a 9.7 +/- 6.8 days mean duration of hospitalization. Bacterial pneumonia, Pneumocystis carinii pneumonia (PCP) and pulmonary lymphoid hyperplasia/lymphoid interstitial pneumonia occurred in 30%, 32% and 22% of the patients, respectively. Bacterial pneumonia and PCP were associated with a high mortality rate. Sixty-eight percent of the patients died within 24 months of the onset of pulmonary disease. In 50% of the children, pulmonary disease was a primary cause of death. The results of this study can be useful in developing prospective studies for the prevention and treatment of pulmonary complications of HIV infection.

Current recommendations for breast-feeding in cystic fibrosis centers.

In recent years, breast-feeding has been strongly recommended, and the decision to breast-feed is made by a large percentage of women before pregnancy. We performed a survey to determine the current recommendations given to mothers in cystic fibrosis (CF) centers. For mothers of infants with CF, 77% of centers recommend breast-feeding alone or with pancreatic enzyme supplements and/or hydrolyzed formula. For mothers with CF, the following responses were given: 11% recommend breast-feeding, 8% do not recommend it, 42% make the recommendation according to the health status of the mother, and 32% make the recommendation according to the personal wishes of the mother. The duration of breast-feeding for mothers of infants with CF was reported to be from 3 to 6 months by 43% of centers, whereas for mothers with CF, 41% of centers reported the duration to be less than 3 months. Several centers reported that their experiences were not always positive, thus indicating a need to establish criteria to predict and ensure a successful outcome.

Efficacy of a nonrestricted fat diet in patients with cystic fibrosis.

We sought to determine if an increased oral intake with a noninvasive nutrition program in patients with cystic fibrosis could influence growth, weight gain, and pulmonary function. Thirty-seven patients, aged 2 to 27 years, were instructed to consume a nonrestricted fat diet during an intervention period of 4 years. The results showed that patients increased the mean energy intake significantly to a level of more than 120% of the recommended daily allowance. The enhanced intake resulted in significant weight gain. Pulmonary function (forced expiratory flow 25%-75%) deteriorated during the 2-year preintervention period but stabilized during the 4-year intervention period. Both male and female patients were able to maintain their established height and weight scores during adolescence. The recommendation for a high-energy diet with no restrictions placed on the fat intake and the control of the steatorrhea by administration of an optimal enzyme dosage is supported by our data. Individualized nutritional counseling should be attempted before implementing invasive nutritional intervention programs.

Outcome of mechanical ventilation in children with acquired immunodeficiency syndrome.

We retrospectively reviewed the records of 18 children with acquired immunodeficiency syndrome (AIDS) who required mechanical ventilation for respiratory failure. These patients represented 35% of the patients seen with pulmonary disease and AIDS. The most common causes of respiratory failure were Pnuemocystis carinii pneumonia (77%) and bacterial pneumonia (33%). Bronchial lavage by fiberoptic bronchoscopy or endotracheal tube suctioning in mechanically ventilated children with AIDS had a high yield for P. carinii. Eight of 18 (44%) children survived the episode of respiratory failure and were weaned from the ventilator. However, four of eight survivors died within 6 months. Arterial oxygen tension on admission and maximum peak inspiratory pressure on the ventilator did not differ between survivors and nonsurvivors. We conclude that children with AIDS who are mechanically ventilated can be weaned from the respirator but that the subsequent course remains poor.

Evaluation of the child with repeated infections.

The workup of a patient with suspected immune deficiency can be initiated by the primary-care physician utilizing readily available diagnostic tests (Table 1). Carefully obtained history and physical examination are crucial and will identify the patient at risk. In almost all cases, simple procedures performed by the physician in his office with routine laboratory assistance will enable him to establish a provisional diagnosis. Referral may then be made to a specialized center for more elaborate diagnostic procedures, confirmation of diagnosis, and definitive therapy.

Host responses to Epstein-Barr virus and cytomegalovirus infection in leprosy.

A study was undertaken in patients with leprosy to assess the contribution of cell-mediated immunity to the host response to Epstein-Barr virus (EBV) and cytomegalovirus (CMV) infection. Sixteen of 72 patients (22%) with lepromatous leprosy, with impaired cellular immunity, had anti-EBV titers of 1,640 or higher. Only 4 of 49 patients (8%) with tuberculoid leprosy, with intact cell-mediated immunity, attained the level of 1:640. The anti-EBV antibody titers were significantly higher in patients with lepromatous leprosy (P approximately 0.025). No significant differences were found in the level of anti-CMV antibody titers in patients with the two types of leprosy. The presence of high anti-EBV antibody titers in lepromatous leprosy suggests that cell-mediated immunity is a significant factor in host response to EBV infection. Host immune responses should be taken into consideration when assignment of an etiological role to EBV is based upon seroepidemiological data.