Medicine
-
A registry of United States residents with chronic granulomatous disease (CGD) was established in 1993 in order to estimate the minimum incidence of this uncommon primary immunodeficiency disease and characterize its epidemiologic and clinical features. To date, 368 patients have been registered; 259 have the X-linked recessive form of CGD, 81 have 1 of the autosomal recessive forms, and in 28 the mode of inheritance is unknown. The minimum estimate of birth rate is between 1/200,000 and 1/250,000 live births for the period 1980-1989. ⋯ Eighteen percent of patients either were deceased when registered or died after being registered. The most common causes of death were pneumonia and/or sepsis due to Aspergillus (23 patients) or Burkholderia cepacia (12 patients). Patients with the X-linked recessive form of the disease appear to have a more serious clinical phenotype than patients with the autosomal recessive forms of the disease, based on the fact that they are diagnosed significantly earlier (mean, 3.01 years of age versus 7.81 years of age, respectively), have a significantly higher prevalence of perirectal abscess (17% versus 7%), suppurative adenitis (59% versus 32%), bacteremia/fungemia (21% versus 10%), gastric obstruction (19% versus 5%), and urinary tract obstruction (11% versus 3%), and a higher mortality (21.2% versus 8.6%).
-
Tracheobronchial amyloidosis (TBA), an idiopathic disorder characterized by deposition of fibrillar proteins in the tracheobronchial tree, occurred in 10 patients referred to the Amyloid Program at Boston University over the past 15 years. Fewer than 100 cases of TBA have been described; only 1 series encompassed more than 3 patients. We analyzed our experience with biopsy-proven TBA to define better its natural history. ⋯ CT-derived measures of airway lumen diameter and wall thickness did not change significantly despite marked improvements in airflow after rigid bronchoscopy. Our experience suggests that serial PFTs and CT imaging together offer the best assessment of airway involvement and disease progression in patients with TBA. In the future, radiation therapy may provide more definitive treatment of TBA than debulking procedure have to date.
-
Although the outcome of renal transplantation in patients with systemic lupus erythematosus (SLE) has been studied, there are few reports about the outcome of patients with systemic sclerosis who have undergone renal transplantation. We retrospectively collected data from the United Network for Organ Sharing (UNOS) Scientific Renal Transplant Registry from a 10-year period. From 1987 to 1997, 86 patients with systemic sclerosis who had renal transplantation were identified. ⋯ Based upon these data, renal transplantation is as effective a treatment for restoring renal function in patients with systemic sclerosis as it is in patients with SLE. Those patients with systemic sclerosis whose renal function did not improve with angiotensin-converting enzyme (ACE)-inhibitor treatments after scleroderma renal crisis should be considered as transplant candidates. Although the data are incomplete, the use of cyclosporine may not confer the advantage of improving graft survival in patients with systemic sclerosis as compared with SLE patients.
-
Henoch-Schönlein purpura (HSP) is an acute leukocytoclastic vasculitis that primarily affects children. In the current report, the author presents the clinical features of 100 children with HSP and reviews the literature, placing particular emphasis on new information concerning the etiology, immunopathogenesis, and treatment of HSP. The dominant clinical features of HSP are cutaneous purpura (100%), arthritis (82%), abdominal pain (63%), gastrointestinal bleeding (33%), and nephritis (40%). ⋯ The long-term prognosis of HSP is directly dependent on the severity of renal involvement. Corticosteroids in usual doses have no effect on established nephritis. Evidence is emerging that treatment with high-dose intravenous pulse methylprednisolone coupled with azathioprine or cyclophosphamide may be beneficial in patients with severe nephritis.
-
Alport syndrome (AS) is a genetically heterogeneous disease arising from mutations in genes coding for basement membrane type IV collagen. About 80% of AS is X-linked, due to mutations in COL4A5, the gene encoding the alpha 5 chain of type IV collagen (alpha 5[IV]). A subtype of X-linked Alport syndrome (XLAS) in which diffuse leiomyomatosis is an associated feature reflects deletion mutations involving the adjacent COL4A5 and COL4A6 genes. ⋯ Spontaneous and engineered animal models are being used to study genetic and pharmacologic therapies. Renal transplantation for AS is usually very successful. Occasional patients develop anti-GBM nephritis of the allograft, almost always resulting in graft loss.