Adult cystic fibrosis

Michael P. Boyle, MD

JAMA. 2007;298:1787-1793.

Cystic fibrosis is a multisystem disease characterized primarily by chronic pulmonary infection and bronchiectasis, pancreatic exocrine impairment, and elevated sweat chloride. In the last 4 decades, new treatment strategies and aggressive nutritional management have resulted in a significant increase in expected survival, with median predicted survival in cystic fibrosis now to older than 35 years. This increase in predicted survival has also been aided by a greater appreciation of the potential variability in the presentation and severity of cystic fibrosis, resulting in identification of a growing number of mild cases. As it is estimated that within the next decade more than half of all individuals with cystic fibrosis will be aged 18 years or older, adult medicine caregivers are increasingly likely to encounter patients with cystic fibrosis and be exposed to their unique medical management.

     

Hepatic abscess complicating ulceroglandular tularemia

In a patient with the clinical features of classic ulceroglandular tularemia a solitary hepatic abscess was found during an ultrasound examination. Hepatic tularemia has rarely been reported since the advent of specific therapy, which prevents the disease from reaching the disseminated state. This case, however, shows that the liver can be involved early in the course of tularemia. Increased serum levels of hepatic enzymes may be the only sign of such a complication.     

Sickle cell disease and cystic fibrosis

Simultaneous occurrence of both cystic fibrosis and sickle cell disease in the same patient is a rare phenomenon and has occurred only in 3 reports in the world literature. This phenomenon has never been described before in Arab population. In this report, we describe the first reported case of both diseases in one patient in the Arab population, and discuss its complications and review the literature in this aspect.     

Hepatic hydatid cyst presenting as cutaneous abscess

Hydatidosis is a parasitic zoonotic echinococcal infection that affects both humans and other mammals. These diseases are common worldwide but particularly common in sheep and cattle farming regions. Anaphylaxis mediated by IgE is a serious complication of surgery or trauma which necessitates more aware of its clinical features, diagnosis and management. It is important to make a preoperative diagnosis based on the typical image findings, so that particular precaution can be taken not to rupture the lesion. A woman presented with a right upper quadrant cutaneous abscess. USG reveals multiple cystic lesions in the liver arranged in cartwheel appearance, CT disclosed a cystic lesions having daughter cysts, marginal calcifications, marginal enhancement and contiguous abdominal wall abscess, which led to a diagnosis of complicated hepatic hydatid cysts with abdominal wall abscess formation. FNAC showed scolices surrounded by chronic inflammatory cells. Abdominal wall abscess may be a presentation of hydatid liver disease.     

Biochemical diagnosis of cystic fibrosis

Three infants, born of two mothers with inflammatory bowel disease who received treatment with sulphasalazine throughout pregnancy, were found to have major congenital anomalies. In the singleton pregnancy, the mother had ulcerative colitis, and the infant, a male, had coarctation of the aorta and a ventricular septal defect. In the twin pregnancy, the mother had Crohn's disease. The first twin, a female, had a left Potter-type IIa polycystic kidney and a rudimentary left uterine cornu. The second twin, a male, had some features of Potter's facies, hypoplastic lungs, absent kidneys and ureters, and talipes equinovarus. Despite reports to the contrary, it is suggested that sulphasalazine may be teratogenic.     

Hypertrophic osteoarthropathy in cystic fibrosis

Seven adult patients with cystic fibrosis who had radiological evidence of hypertrophic osteoarthropathy were reviewed. In five of the patients symptoms were particularly pronounced at times of acute infective exacerbations; appropriate treatment of the infective episodes resulted in reduction or resolution of the bone pain and joint effusions. Despite this symptomatic relief periosteal changes persisted radiologically and their chronic nature was indicated by changes in the midshafts of long bones. Four of the seven patients had transient gynaecomastia or mastalgia related to infective exacerbations. It is hypothesised that a neuroendocrine mechanism--namely, release of vasoactive intestinal polypeptide--might account for the osteoarthropathy.