Scleroderma in a patient with X-linked agammaglobulinaemia.
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Biomedical subjects
Publications and source records attributed to O N Pamuk.
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We report the case of 36-year-old woman who came to us with a history of recurrent miscarriages and who was later diagnosed as having primary antiphospholipid syndrome (PAPS) and chronic hepatitis C virus (HCV) infection. The patient was referred to us with generalised seizures; cranial MRI revealed multiple embolic infarcts in both frontal lobes and a focal cortical infarct in the left frontoparietal lobe. Her echocardiography showed mitral valve vegetation and insufficiency. The patient was put on oral anticoagulant therapy and during her 8-month follow-up period no thrombotic events occurred. We report this case because it was the first in which PAPS, valvular disease, a cerebral embolic event and HCV infection were coexistent in the same patient. We also review other cases in which there was valvular vegetation and a cerebral ischaemic event associated with PAPS.
In the 36-year period between 1966 and 2002, 514 patients were diagnosed with sarcoidosis at Cerrahpaşa Medical Faculty, Istanbul, Turkey, and of these 98 (19.1%) had Löfgren syndrome. The frequency of female patients with Löfgren was higher than the frequency among other sarcoidosis patients (female:male ratio 4.8 vs. 1.64; P < 0.001). Erythema nodosum was diagnosed in 72.4% of the subjects and arthritis or arthralgia was diagnosed in 51%. Erythema nodosum and arthritis or arthralgia were more frequent in Löfgren; however, pulmonary parenchymal involvement was more frequent in other sarcoidosis patients (all P-values < 0.001).
In a 53-year-old male patient with metastatic adrenal carcinoma, treatment with mitotane was instituted but he was lost to follow-up. Two years later, he presented with oedema and nephrotic-range proteinuria. The rectal and renal biopsies revealed an accumulation of secondary amyloid material. The patient died of respiratory failure caused by the progressive pulmonary metastases. This is the first report of a patient with adrenal carcinoma who developed secondary amyloidosis.
In this retrospective study, we evaluated the clinical features and the effects of various treatment modalities on the clinical course in patients diagnosed with idiopathic thrombocytopenic purpura (ITP) at our center between 1984-2000. We retrospectively examined the medical records of 321 (229 females, 92 males) ITP patients. One hundred and seventy-one (53.3%) patients were lost to follow-up. When evaluating the clinical features, all 321 patients were included; however, when the response to treatment modalities was evaluated only 150 patients followed up regularly were considered. The median age of the patients on initial diagnosis was 34 years (range: 14-78). At initial diagnosis, 235 (73.2%) patients had signs of bleeding. Of patients diagnosed with ITP initially, six later turned out to have systemic lupus erythematosus (SLE) and two myelodysplastic syndrome (MDS). The median follow-up of 150 patients followed up regularly was 30 months (range: 4-396). One hundred and thirty-seven of these subjects had an indication for treatment and 94.2% of them were administered either standard or high-dose steroids as the first-line therapy. Complete remission (CR) was defined as any platelet count >100,000/mm(3) lasting for 3 months or longer without treatment. CR was achieved in 51.9% of the patients given steroids as the initial therapy. During a median follow-up of 33 months, relapse occurred in 58.2% of these patients, and after a median follow-up of 11 months the rest of them were still in remission. Ninety-eight patients followed up regularly were administered second-line therapies. CR was obtained in 44.4% of the patients who used steroids as second-line therapy. Within a median follow-up of 15 months, 20.8% of these patients relapsed. Splenectomy was performed in 76 patients and CR was obtained in 68.4% of the regularly followed up patients. Relapse occurred within a median of 96 months in 15.4% of the patients who had CR. Kaplan-Meier curves showed that the duration of CR obtained by splenectomy was significantly higher than that obtained by steroids (p<0.001). The 10-year disease-free survivals in patients who used steroids and who underwent splenectomy were, respectively, 13% and 58%. In our adult ITP patients, steroids induced nearly similar rates of CR both as first-and second-line therapies. Splenectomy seems to be effective in patients unresponsive to steroids. The duration of CR obtained by splenectomy is significantly longer when compared with the duration of CR obtained by steroid therapy.
It is quite rare to diagnose secondary amyloidosis during the course of Castleman's disease (CD). A 51-year-old female who complained of fatigue, weight loss, and fever was diagnosed with CD -- plasma cell type -- in our hospital in 1993. One year after diagnosis, she developed nephrotic syndrome, the etiology of which was found to be secondary amyloidosis based on renal biopsy. As the patient rejected therapy, she was discharged after only symptomatic treatment. At her last follow-up in March 2001, she had no complaints; physical examination, blood chemistries, and urinalysis were normal. Abdominopelvic tomography revealed no lymphadenopathy in the abdomen, which had been previously present. We could identify 17 other cases of CD with secondary amyloidosis in the literature. Ours is the 18th such case and the 2nd case of multicentric CD leading to amyloidosis. This case also shows that CD might sometimes run a relatively benign course being cured with no therapy, whereas it might have a rapidly fatal downhill course -- even with therapy -- in others. Still, effective treatment strategies need to be developed.
Despite being recognised much more frequently than in the past, renal involvement has not previously been regarded as a feature of Behcet's disease (BD). In this study we aimed to assess the frequency of renal involvement in BD by performing urinalyses of 674 consecutive BD patients; we also retrospectively evaluated the charts of 4212 BD patients for the incidence of glomerulonephritis (GN). Urinary abnormalities (proteinuria and/or haematuria) were present in 10.8%; and during a period of 23 years GN was detected by renal biopsy in seven (0.16%) BD patients. Two patients with GN were lost to follow-up; end-stage renal failure developed in only one patient, and she underwent renal transplantation. We were unable to determine any pathognomonic feature that was predictive of renal involvement. Although males tend to have a more serious clinical course of BD the incidences of urinary abnormalities and GN were similar in both sexes in our series. According to our results, we can conclude that urinary abnormalities are more frequent in BD; however, serious renal lesions develop in only very few of these patients.
Familial Mediterranean fever (FMF) is a hereditary disease, the most threatening complication of which is systemic amyloidosis. The thyroid gland may be asymptomatically involved in most patients with systemic amyloidosis secondary to FMF. However, clinically detectable thyroid goitre is quite rare, and until now only nine cases of thyroid goitre secondary to amyloid deposition in FMF have been reported. Of 1,100 FMF patients regularly followed up at our centre, thyroid goitre due to the accumulation of amyloid substance could be detected in only three (0.27%). In this report, we summarise the clinical and laboratory features of these patients. All three patients were euthyroid. Total thyroidectomy was performed for compressive symptoms in one patient and for aesthetic purposes in the other two. In countries with a high prevalence of FMF, such as Turkey, secondary amyloidosis of the thyroid gland should be borne in mind in long-standing FMF patients.
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Diabetic glomerulosclerosis might be seen in diabetics but its presence in patients with impaired glucose tolerance is quite rare. A 31-year-old woman who was admitted to our department was diagnosed with hypertension, nephrotic syndrome and impaired glucose tolerance. Her renal biopsy was compatible with diabetic glomerulosclerosis. She developed overt diabetes mellitus (DM) after one year of impaired glucose tolerance. Hypertension might have accelerated the progression of diabetic nephropathy.
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Progressive systemic sclerosis (PSS) is a connective tissue disease that may affect many organs, including the kidneys. It is quite rare to see secondary amyloidosis due to PSS. We present a patient with a 9-year history of PSS who developed nephrotic syndrome, and whose renal biopsy was compatible with secondary amyloidosis. He died from massive upper gastrointestinal bleeding caused by oesophageal telangiectasia.
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Giant cell (temporal) arteritis (GCA) may be a cause of fever of unknown origin (FUO) in elderly patients. The development of secondary (reactive) amyloidosis is an unusual complication of the disease. We describe a 65-year-old male patient who was hospitalized in our hospital with FUO and was diagnosed as having GCA 5 years later. At that time, he also had a nephrotic syndrome and secondary amyloidosis (AA-type). He died due to end-stage renal failure. The probable explanation for the development of this rare complication might be the late diagnosis of this chronic inflammatory disease, which was left untreated for a long period of time.
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