AS is self-limiting and a non-urgent surgical condition. It can be differentiated from other pathologies by clinical spectrum, patient demographics and in doubtful circumstances (acute limb ischemia) by Doppler sonography. An algorithmic approach can avoid hospital admissions, partially unnecessary investigation and assist in patient assurance.
A 15 year old boy with autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy syndrome suVered recurrent episodes of severe intractable diarrhoea, steatorrhoea, and hypocalcaemia. The only treatment modality, which controlled themalabsorptionsyndrome,wasimmunosuppression with intravenous high dose methylprednisolone and oral methotrexate maintenance therapy. (Arch Dis Child 1997;76:532-534) Keywords: autoimmune polyendocrinopathycandidosis-ectodermal-dystrophy syndrome; malabsorption; immunosuppression Autoimmune polyendocrinopathy-candidosisectodermal dystrophy (APECED) is a rare autosomal recessive disease, characterised by variable endocrine deficiencies, chronic mucocutaneous candidiasis, and keratopathy. Prolonged periods of diarrhoea and intestinal malabsorption are uncommon features of the syndrome. 1We describe a patient with APECED who suVered recurrent episodes of severe intractable diarrhoea, steatorrhoea, and hypocalcaemia; this was controlled by immunosuppression with intravenous high dose methylprednisolone and oral methotrexate maintenance therapy. Case reportA 15 year old boy first presented at the age of 2.5 years with a history of mucocutaneous candidiasis, alopecia totalis, muscle cramps, and tetany. The patient was the third son of Jewish consanguineous parents of Iranian ethnic origin. A sister died of Streptococcus pneumoniae septicaemia and red cell hypoplasia at the age of 8 years.Hypoparathyroidism was confirmed by serum calcium 1.3 mmol/l, serum phosphorus 2.7-3 mmol/l, tubular reabsorption of phosphorus 99%, and low parathyroid hormone concentrations 2.5-10 pg/ml (normal 10-65 pg/ml), in the presence of hypocalcaemia. In addition subclinical hypoadrenalism was evident: low basal plasma cortisol 71.7 nmol/l (normal >220 nmol/l) with an abnormal response to adrenocorticotrophic hormone stimulation of 176.6 nmol/l (normal >496 nmol/l).The diagnosis of APECED was made on the basis of these clinical symptoms, family history, and laboratory tests confirming hypoparathyroidism and hypoadrenalism.The patient's disease course has been punctuated by recurrent episodes of tetany and episodes of diarrhoea with steatorrhoea; the coefficient of fat absorption (CFA) ranged between 15 and 35% (fig 1). These two symptoms were not always present at the same time, and serum calcium was maintained within the normal range when the CFA ranged between 65 and 85%.Repeated stool cultures for viruses and bacteria were all negative, as was staining for cryptosporidium and other parasites. No improvement in stool volume or steatorrhoea was noted after a prolonged course of ketoconazole (6 mg/kg/day) or metronidazole (250 mg/day) treatment. During exacerbation, stool volumes ranged between 1-4 litres per day, did not respond to any elimination diet, but did to reduction in food or oral fluid intake. The stools showed large amounts of fat globules, fatty acid crystals, glucose and had a pH of 4-5. Stool electrolyte concentrations during exacerbation were sodium 35 mmol/l, potassium 20 mmol/l, chlo...
Intestinal permeability was significantly enhanced in patients with familial Mediterranean fever treated with colchicine.
A potential virulence determinant of Helicobacter pylori is the cagA gene product. To determine the relevance of the expression of CagA to the clinical picture and outcome of H. pylori infection in children, we examined 104 consecutive children diagnosed with H. pylori infection. Serum samples were collected to test for the presence of immunoglobulin G (IgG) anti-CagA antibodies. Forty-five patients (43%) had antibodies to the CagA protein (group I), and 59 did not (group II). Seropositive patients had a longer prediagnostic history of abdominal pain (P = 0.02), more severe abdominal pain (defined as ulcer pain) (P = 0.05), a higher prevalence of duodenal ulcer (38 versus 7%; P < 0.01), more active chronic gastritis (82 versus 32%; P < 0.001), and a higher titer of serum IgG anti-H. pylori antibodies (P < 0.001). Ninety percent of the patients were monitored for 27 ± 18 months. On multivariate analysis, CagA-negative patients had a 3.8-fold-higher chance of achieving a disease-free state than CagA-positive patients (95% confidence interval, 1.5- to 9.5-fold). We conclude that infection with CagA-producing strains of H. pylori is a risk factor for severe clinical disease and ongoing infection.
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