Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fabry's disease is a rare familial disorder of glycolipid metabolism which is caused by a deficiency of a lysosomal enzyme alpha-galactosidase. A Finnish family is described in which cornea verticillata was found in the father and 2 daughters. In all cases, there were symptoms suggesting Fabry's disease: febrile episodes the origin of which was not clear, limb pains and, in the case of the father, 20 years of proteinuria with elevated ESR, and hemiplegia and aphasia following a cerebral thrombosis at the age of 43. The diagnosis was confirmed by demonstration of an alpha-galactosidase deficit in the serum and urine of all patients. Deficiency of this enzyme leads to abnormally high urinary tri- and dihexosyl ceramide levels, and this was observed in the father and the elder daughter. At the age of 12, the daughter had loss of vision in her right eye as a result of occlusion of the central retinal artery. Electron microscopic (EM) examination of the father's dermal angioma suggested Fabry's disease. Computerized cranial tomography of the father revealed not only the cerebrovascular condition but also a disease affecting the white matter of the brain.
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PMID:Fabry's disease and cornea verticillata. A report of 3 cases. 679 29

Ten hospitals participated in a cross-sectional study to determine the prevalence of vascular complications in non-insulin dependent diabetes mellitus (NIDDM). The patients were 1433 females and 627 males, aged 24-88 years (mean +/- S.D. = 58.0 +/- 9.9). Duration of diabetes varied from newly diagnosed to 42 years (mean +/- S.D. = 8.2 +/- 6.5). Obesity was noted in 16.9% of males and 27.4% of females. The prevalence of hypertension, myocardial infarction (MI), hemiplegia, absent dorsalis pedis pulse, gangrene and amputation were 38.4, 2.8, 3.7, 5.8, 0.3 and 1.3%, respectively. Diabetic retinopathy (DR) was found in 32.1% of the patients. Proteinuria of > or = 2+ was observed in 18.7% of the patients. Stepwise multiple logistic regression analysis revealed that hypertension was significantly and independently correlated with MI, hemiplegia and DR but not with proteinuria or absent dorsalis pedis pulse. DR and proteinuria had a strong correlation with each other. Age of the patients weakly correlated with macrovascular diseases. Diabetic control and duration showed a weak correlation with microvascular complications. This study showed that DR was frequently found in Thai NIDDM. Hypertension was not only the commonest disorder but it also showed an independent association with other vascular complications. Early detection and intervention for both need to be emphasized and re-enforced in clinical practice.
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PMID:Vascular complications in non-insulin dependent diabetics in Thailand. Thai Multicenter Research Group on Diabetes Mellitus. 783 13

Based on two patients, we discuss the difficulties in diagnosing and managing primary aldosteronism in pregnancy, which derive from changes of the renin-angiotensin-aldosterone axis, from the uncertainty regarding blood pressure control along gestation and postpartum, and from the contraindication to the use of spironolactone. The first case is a 27 years old woman with a long standing refractory hypertension, a hemorrhagic stroke with left brachial hemiplegia and crural hemiparesia, two miscarriages, one stillbirth and one offspring with intrauterine growth retardation. Due to hypokalemia, a plasma aldosterone/renin activity ratio of 91, and a negative genetic screening for glucocorticoid remediable aldosteronism (GRA), a primary hyperaldosteronism with normal adrenals in CT scan was diagnosed, and good blood pressure control was attained with spironolactone. After two and a half years of normotension, a fifth pregnancy, managed with methyldopa evolved with satisfactory blood pressures, plasma potassium, fetal growth, uterine and umbilical arterial resistance indexes, and maternal endothelial function. At 37 1/2 weeks of pregnancy the patient delivered a healthy newborn weighing 2,960 g. Blood pressure rose during the 48 hours of postpartum in the absence of proteinuria and required i.v. hydralazine. The second patient is a 37 years old woman, with known refractory hypertension for 7 years, hypokalemia, plasma aldosterone/renin activity ratio greater than 40, normal adrenals in the CAT scan, and a negative genetic screening for GRA. She had normotensive pregnancies 5 and 3 years prior to the detection of hypertension, with hypertensive crisis in both postpartum periods, retrospectively considered as expressions of primary hyperaldosteronism.
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PMID:[Primary aldosteronism and pregnancy: report of 2 cases]. 1261 Dec 41

We described herein a patient who presented an overlap syndrome of childhood-onset systemic polyarteritis nodosa (c-PAN) and childhood-onset systemic lupus erythematosus (c-SLE). A 9-year-old girl presented tender subcutaneous nodules on feet, arterial hypertension, right hemiplegia and dysarthric speech. She was hospitalized due to stroke and left foot drop. Brain computer tomography showed ischemic stroke. Magnetic resonance angiography revealed stenosis in the middle cerebral and internal carotid arteries. Electroneuromyography identified a mononeuropathy of left posterior tibial nerve and she fulfilled the c-PAN validated criteria. She was treated with intravenous methylprednisolone pulse therapy followed by prednisone, that was progressively tapered, six months of intravenous cyclophosphamide and after that she received azathioprine for 19 months. At the age of 14 years and 9 months, she presented malar rash, photosensitivity, edema in lower limbs and arterial hypertension. The proteinuria was 1.7g/day. Antinuclear antibodies (ANA) were 1/1280 (homogeneous nuclear pattern) and anti-dsDNA antibodies were positive. Renal biopsy showed focal proliferative and membranous glomerulonephritis. Therefore, she fulfilled the American College of Rheumatology classification criteria for SLE and she was treated with prednisone, hydroxychloroquine and mycophenolate mofetil. In conclusion, we described herein a possible overlap syndrome of two autoimmune diseases, where c-PAN occurred five years before the c-SLE diagnosis.
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PMID:[Childhood-onset systemic polyarteritis nodosa and systemic lupus erythematosus: an overlap syndrome?] 2582 73