Carbonic anhydrase II deficiency: report of a novel mutation.

Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure, and mental retardation. Several cases have been reported in Saudi Arabia with homozygous mutations in CA2 consistent with a high degree of consanguinity. We report a case of carbonic anhydrase II deficiency with short stature, mixed renal tubular acidosis, recurrent bone fractures due to trivial trauma, recurrent renal stones and cerebral calcification. This patient was compound heterozygous for a novel CA2 mutation and a previously reported mutation in Arabs.

Chronic obstructive pulmonary disease in the older patient.

Chronic obstructive pulmonary disease (COPD) is one of the most common chronic diseases in the world. It is a major cause of morbidity, mortality, and health care use, particularly in older adults. In the following sections, the authors review the diagnosis and management of COPD with a focus on special issues in older adults.

Transplant-related bronchiolitis obliterans (BOS) demonstrates unique cytokine profiles compared to toxicant-induced BOS.

Bronchiolitis obliterans (BOS - bronchiolitis obliterans syndrome - clinical diagnosis; CBO-histopathologic diagnosis), is a chronic disease process of fibrosis and cellular deposition in airways, complicating long term survival following lung transplantation. BOS is also the result of sporadic toxicant exposure, with airway signs, symptoms, and histology indistinguishable from allograft rejection. This study establishes a transplant BOS model in MHC-mismatched rats and compares their cytokine profiles and histopathology to that of our established toxicant-induced BOS model. Both models result in lung histopathology similar to human disease. Cytokines and inflammation markers that are elevated in human transplant BOS (TGFbeta, iNOS, IFNgamma) were also elevated significantly in both models. Anti-nuclear antibody was absent from all sera in transplant or toxicant models exhibiting advanced airway pathology. The cytokine osteopontin was highly elevated in BAL early in toxicant-induced BOS, but increased late in the transplant-induced BOS model. The data show that BOS is a disease of a pathologic endpoint that is induced by different triggers and processes. The highly elevated BAL osteopontin early in the toxicant-induced BOS model suggests a need for evaluation in the diagnostic setting.