Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis.

Glucose-6-phosphate dehydrogenase deficiency.

We highlight a chronic inflammatory disease we call 'hyper-IgG4 disease', which has many synonyms depending on the organ involved, the country of origin and the year of the report. It is characterized histologically by a lymphoplasmacytic inflammation with IgG4-positive cells and exuberant fibrosis, which leaves dense fibrosis on resolution. A typical example is idiopathic retroperitoneal fibrosis, but the initial report in 2001 was of sclerosing pancreatitis. We report an index case with fever and severe systemic disease. We have also reviewed the histology of 11 further patients with idiopathic retroperitoneal fibrosis for evidence of IgG4-expressing plasma cells, and examined a wide range of other inflammatory conditions and fibrotic diseases as organ-specific controls. We have reviewed the published literature for disease associations with idiopathic, systemic fibrosing conditions and the synonyms: pseudotumour, myofibroblastic tumour, plasma cell granuloma, systemic fibrosis, xanthofibrogranulomatosis, and multifocal fibrosclerosis. Histology from all 12 patients showed, to varying degrees, fibrosis, intense inflammatory cell infiltration with lymphocytes, plasma cells, scattered neutrophils, and sometimes eosinophilic aggregates, with venulitis and obliterative arteritis. The majority of lymphocytes were T cells that expressed CD8 and CD4, with scattered B-cell-rich small lymphoid follicles. In all cases, there was a significant increase in IgG4-positive plasma cells compared with controls. In two cases, biopsies before and after steroid treatment were available, and only scattered plasma cells were seen after treatment, none of them expressing IgG4. Review of the literature shows that although pathology commonly appears confined to one organ, patients can have systemic symptoms and fever. In the active period, there is an acute phase response with a high serum concentration of IgG, and during this phase, there is a rapid clinical response to glucocorticoid steroid treatment. We believe that hyper-IgG4 disease is an important condition to recognise, as the diagnosis can be readily verified and the outcome with treatment is very good.

/pdf/hyper-igg4-disease-report-and-characterisation-of-a-new-5gfyop8lz3.pdf

Hyper-IgG4 disease: report and characterisation of a new disease

Cardiovascular disease is the leading cause of mortality in patients with end-stage renal disease (ESRD), with cardiac disease alone accounting for 40% of all deaths. Ischemic heart disease, heart failure, and cardiomyopathy are the most frequent causes of cardiac death ([1][1]), but valvular

/pdf/calcification-of-the-aortic-valve-in-the-dialyzed-patient-1vmywitgj8.pdf

Calcification of the aortic valve in the dialyzed patient.

Background— Minimal data exist on the long-term survival of dialysis patients after cardiac valve surgery. Current practice guidelines of the American College of Cardiology/American Heart Association Task Force on the management of patients with valvular heart disease proscribe the use of bioprosthetic (tissue) valves in hemodialysis patients. Methods and Results— Dialysis patients hospitalized for heart valve replacement surgery from 1978 to 1998 were retrospectively identified from the US Renal Data System database. Long-term survival was estimated by the life-table method. The impact of demographic differences and comorbidity on outcome were examined in a Cox proportional hazards model. The in-hospital mortality of 5858 dialysis patients undergoing valve surgery was 20.7%. Aortic valve replacement was performed in 3415 patients (58%), mitral valve replacement in 1848 patients (32%), and combined aortic and mitral valve replacement in 562 patients (10%). Tissue valves were used in 881 patients. There wa...

Long-term survival of dialysis patients in the United States with prosthetic heart valves: Should ACC/AHA practice guidelines on valve selection be modified?

Asbestos exposure as a risk factor for retroperitoneal fibrosis

Une enquete multicentrique retrospective, portant sur les 230 centres de dialyse chronique de France metropolitaine pendant la periode du 1 M janvier 1988 au 31 decembre 1992, a identifie 98 patients dont la severite de la valvulopathie justifiait une intervention chirurgicale. L'incidence annuelle a ete estimee entre 15 et 19 cas pour 10 000 dialyses. Les causes les plus frequentes etaient les valvulopathies calcifiees (69 %) et les endocardites (19 %). Les valvulopathies calcifiees entrainaient principalement une stenose aortique, tandis que les endocardites conduisaient le plus souvent a une insuffisance mitrale. Deux appareils valvulaires etaient leses chez 32 % des patients atteints d'endocardite et chez 9 % de ceux qui avaient une valvulopathie calcifiee. Soixante-et-un patients ont ete operes. La mediane de survie apres chirurgie etait de 25 ± 3.0 mois. Les patients operes pour une valvulopathie calcifiee, ou une stenose aortique ou ayant eu un seul remplacement valvulaire avaient une mediane de survie de 36 mois. Ceux qui ont ete operes pour une endocardite ou qui ont eu un remplacement de 2 valves avaient une mediane de survie inferieure a 12 mois. La survie actuarielle des patients operes differait significativement entre : a) les patients dont l'evaluation preoperatoire montrait une seule lesion severe et ceux qui avaient plusieurs lesions (p = 0,0021, b) les patients dont une seule valve a ete remplacee par rapport a ceux qui ont eu un autre type de chirurgie (p = 0,001), c) les patients dont seule la valve aortique a ete remplacee par rapport a ceux qui ont eu une autre intervention (p = 0,004). L'analyse multivariee (entre la cause, le nombre des lesions valvulaires severes et le type de chirurgie a montre que la survie dependait significativement seulement du nombre de lesions valvulaires severes (p = 0,0021 Cinq patients ayant un retrecissement aortique severe sont decedes avant que l'acte chirurgical programme ait pu etre realise. le retrecis-Ces donnees suggerent que, chez les patients dialyses, le retrecissement aortique calcifie est la plus frequente des valvulopathies. Du fait que, dans cette population, il progresse rapidement, donnant lieu precocement a une insuffissance cardiaque, le risque operatoire, bien qu'eleve, semble acceptable quand il n'y a pas de lesion valvulaire severe associee.

Severe valvular heart disease in patients on chronic dialysis: A five-year multicenter French survey

Asbestos and idiopathic retroperitoneal fibrosis

Sir, Septata intestinalis is a recently described microsporidium which has been implicated in causing chronic diarrhoea and/or disseminated infections in AIDS patients.' Unlike infection with Enterocytozoon bieneusi, the other common microsporidium isolated from stools of AIDS patients with chronic diarrhoea, infection with S intestinalis responds to treatment with albendazole.2 To our knowledge this is the first case report ofthe parasite from the UK. A 28-year-old man presented with a history of chronic diarrhoea over a period of four months. Initially he passed two stools per day increasing to seven or eight times per day. The stools were watery with no blood or mucus. Prior to admission he began to spike fever and complained of loss of weight from 10 st to 8 st. The patient spent 18 months in Tokyo and then visited Borneo for a short while, before returning to the UK six months ago. Whilst abroad he was in good health. On examination he looked thin, dehydrated and febrile and, except for an enlarged right supraclavicular lymph node, there were no other clinical findings. Ultrasound study of the abdomen was normal but the chest X-ray revealed a right supraclavicular lymph node, right paratracheal lymph node and bilateral hilar lymph node enlargement. The right supraclavicular lymph node was aspirated and showed auramine-positive bacilli. The patient denied any risk factors for HIV. Repeat stool samples were negative for routine culture of bacteria. A routine study of stools for parasites was also negative and therefore stools were sent to the London School ofHygiene and Tropical Medicine for further studies. Diagnosis was first made from an unformed mucoid faeces, which was examined for ova, cysts and parasites (OCP) by formol ether concentration, for cryptosporidium and cyclospora using the phenol auramine and modified Zeihl Neelson methods and for microsporidia by the Kokoskin3 strong trichrome method. No OCP or coccidians were detected in the sample, but very scanty microsporidium spores were found. A further sample taken 14 days later was also negative for OCP and coccidians, but contained a larger number of spores, which morphologically were consistent with those of S intestinalis. As this organism is known to disseminate to other sites in the body,4 especially the urinary tract, urine samples were obtained from the patient and stained for spores; none were found. The presence of S intestinalis in the stool and the auramine-positive bacilli from lymph node aspirate indicated that the patient was immunocompromised. He was therefore advised to have an HIV test which was found to be positive. His CD4 count was 0.06 x 109/1 and CD8 count was 0.81 x 109/1, with significant absolute T helper cell lymphopenia. The patient's diarrhoea was treated with oral albendazole 400 mg bid for 28 days and settled after a week's treatment. The incidental finding of microsporidial spores in this patient underlines the need for laboratories to examine all faecal samples from patients with Septata intestinalis

https://pmj.bmj.com/content/postgradmedj/71/842/764.2.full.pdf

A. Baglin

Papers

Severe valvular heart disease in patients on chronic dialysis: A five-year multicenter French survey

Asbestos and idiopathic retroperitoneal fibrosis

Transient ischaemic attack, infectious meningitis, or neurosarcoidosis?

Metastasis or visceral larva migrans

[Symptomatic hypercalcemia after vitamin D-thiazide diuretics combination. Two cases in elderly women].