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)

The clinical and pathologic features of progressive renal disease in 4 patients with Down's syndrome are described. All patients were male, between 20 and 30 years of age at the time of clinical presentation. Three out of 4 had proteinuria, and 2 had hematuria. Serologic tests for hepatitis B virus infection and antinuclear antibodies performed in 2 patients were negative. Examination of renal tissue from biopsy and/or from autopsy revealed mesangiocapillary glomerulonephritis (MCGN), type 1. While an increased incidence of congenital heart disease and acute leukemias has been documented in Down's syndrome, an association with MCGN has not been reported previously to our knowledge. This probably represents a form of idiopathic MCGN and may be related to the long survival of these individuals.
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PMID:Mesangiocapillary glomerulonephritis in Down's syndrome. 183 96

We describe a 28-year-old woman with nonamyloidotic fibrillary glomerulopathy. She had modest but stable renal insufficiency over a ten-year period, nephrotic-range proteinuria, sarcoidosis, and seven of the 25 signs of Down's syndrome. The rarity of the co-occurrence of these conditions suggests that they are not etiologically linked.
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PMID:Nonamyloidotic fibrillary glomerulopathy. 254 Jul 28

A 3 year old girl with Down's syndrome became lethargic and withdrawn, and investigations showed a specific malabsorption of vitamin B12 without proteinuria.
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PMID:Specific malabsorption of vitamin B12 in Down's syndrome. 294 Sep 80

The objective of the present study was to investigate whether increased beta-human chorionic gonadotrophin (beta HCG) plasma concentrations in an unselected population of nulliparas could predict the occurrence of complicated pregnancy-induced hypertension (PIH). The design was that of a prospective population study. It was conducted at the obstetric departments of Amiens University Hospital and Creil General Hospital on 434 consecutive nulliparas with singleton pregnancies after natural fertilization who accepted the systematic offer of trisomy 21 screening but for whom this disorder was finally estimated. Measurement of plasma concentration of beta HCG (ELISA method) was carried out between 14 and 20 weeks (mean: 17 weeks) of amenorrhea, and measurement of blood pressure and proteinuria (> 300 mg/24 h or Albustix +2) during the first, second and third term and 2-3 months after the delivery, as well as measurement of birth weight for determination of small for gestational age (SGA) babies, 37 women developed PIH, 10 without other complication, 16 with proteinuria (5 of which with SGA babies) and 11 with SGA babies. Furthermore 2 patients presented abruptio placentae without PIH. 395 women did not develop PIH including 389 normotensive women and 6 chronic hypertensive patients without superimposed toxemia. Only 1 was diabetic. None had chronic renal disease. Mean (+/- SD) levels of beta HCG were higher in PIH than in controls: 46,805 +/- 19,068 versus 23,479 +/- 13,463 IU. A pathologic threshold was chosen as the mean for the whole population + 1 SD: 25,613 + 15,479 = 41,082 IU. Elevated levels (above this value) were significantly associated with isolated PIH or PIH complicated with proteinuria and/or with SGA babies. The positive predictive value of this criterion was respectively 11, 15 and 12% for each of these complications. The relative risk (and 95% confidence limit) of women with elevated beta HCG for each of these complications was 20 (6-79), 11 (4-43) and 22 (7-93). Elevated plasma beta HCG found around 17 weeks of amenorrhea predicts PIH complicated with either proteinuria or SGA babies with a positive predictive value comparable to that of the best and earliest test proposed up to now to select nulliparas at high risk of preeclampsia, namely the abnormalities of the Doppler waveforms of the uterine arteries. Since this test is simpler to perform, it represents the most convenient method to screen a population of nulliparas for evaluation of the benefits of low-dose aspirin.
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PMID:Validity in nulliparas of increased beta-human chorionic gonadotrophin at mid-term for predicting pregnancy-induced hypertension complicated with proteinuria and intrauterine growth retardation. 873 Apr 21

Soluble A beta (Sa beta) is normally present at a low concentration in human plasma and cerebrospinal fluid. Although the factors involved in the regulation of Sa beta plasma levels are still unknown, we have explored its excretion in the urine as one of the possible homeostatic mechanisms. The presence of Sa beta in the urine was investigated via immunoprecipitation experiments with anti-A beta antibodies followed by detection and identification by immunoblot, MALDI mass spectrometry and sequence analysis. Soluble A beta (4.3 kDa) immunoreactivity was present in the urine of normal donors, Down's syndrome individuals as well as in patients with renal disorders exhibiting glomerular or mixed proteinuria. Edman degradation of the immunoprecipitated material yielded the intact A beta N-terminus and mass spectra analysis indicated the existence of a major component at mlz 4327, corresponding to the molecular mass of A beta1-40. Semiquantitative data obtained from the immunoprecipitation experiments indicate that under normal conditions the daily excretion of intact Sa beta in the urine represents less than 1% of the circulating pool.
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PMID:Alzheimer's soluble amyloid beta is a normal component of human urine. 918 Feb 78

A range of renal diseases have been previously described in patients with Down syndrome. With increased survival, it appears that a growing number of these patients present with chronic renal failure. Definition of underlying causes of renal failure could potentially lead to prevention of progressive renal dysfunction in this population. We report two index cases of teenaged Down patients who presented with proteinuria and focal segmental glomerulosclerosis with hyalinosis, not previously described in this population. In addition, autopsy files were reviewed at the Johns Hopkins Hospital to assess renal and especially glomerular pathology in Down patients. Additional cases, including acute glomerulonephritis with early crescents and vasculitis, minimal change disease, and membranous nephropathy, were identified; the latter two diseases had not been previously reported in patients with Down syndrome. Semiquantitative studies on glomerular changes in all cases examined through autopsy also were performed. The only pathological finding that was significantly more common in the Down syndrome group, compared with age-matched cases from the autopsy files, was cystic dilation of Bowman's space. Histological findings described as increased in the Down population in previously published autopsy studies were also present in the control population, highlighting the need to adequately control such studies. The cases of acquired glomerular disease reported here were seen largely after the first decade of life. Monitoring of Down patients for renal and especially glomerular disease should be done regularly as patients age into the second and third decades.
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PMID:Renal disease in Down syndrome: autopsy study with emphasis on glomerular lesions. 946 6

A study of the risks of late pregnancy for mothers and their children indicates that there is still excess risk for mothers over age 35 but the difference is decreasing relative to the general population. National surveys of pregnancy and delivery conducted in France in 1976 and 1981 were the major source of data, supplemented by records of women giving birth in the Clinic Baudelocque, a university clinic in Paris, and by foreign data. Maternal mortality in France among women 35 and over declined from 71.7/100,000 in 1975 to 39.6/100,000 in 1983, at the same time that maternal mortality in the general population declined from 19.9 to 15.5/100,000. The risk of mortality for mothers over 34 was 3.6 times higher in 1975 and 2.6 times higher in 1983 than for the general population. In a series of 3858 pregnancies overall and 544 among women over 34, the rates of hypertension were 9.2% for all mothers and 12.3% for older mothers, while the rate for diabetes was 1.1% for all mothers and 2.4% for older mothers. Rates of proteinuria and urinary infection were about the same for the 2 groups. Rates of stillbirth in 1983 were 13.0/1000 for children of mothers 35 and over 7.6/1000 for the population at large. The frequency of trisomy 21 is very closely related to age, but the excess risk due to age is declining as result of more frequent antenatal diagnosis among older mothers. By 1976, the risk of prematurity of low birth weight was almost the same for infants of older mothers as for the population at large. Rates of prematurity were 5.6% for the general population and 5.9% for older mothers, while rates of birth weight under 2500 g were 5.2% for the general population and 5.6% for older mothers. The number of prenatal visits increased more for mothers over 34 years old than for the general population between 1976-81; in 1981, 46.4% of older mothers but only 32.3% of the general population had more than 7 prenatal consultations. The proportion of older mothers in the labor force and with university education increased considerably between 1976-81. 2 factors appear to have played a role in the improved health of older mothers and their children, improved prenatal surveillance and changes in the characteristics of the older mothers themselves. Data for England indicate that risk of prenatal mortality varies as a function of the father's occupation. The excess risk for infants of older mothers in England tends to disappear for children of the highest social classes.
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PMID:[Pregnancy after 34 years: risks and evolution of risks]. 1228 Dec 43

Kidney disease has not been considered a frequent complication in Down syndrome (DS) patients; a variety of urological abnormalities and glomerulopathies have been reported in this population, and some DS patients develop chronic renal failure (CRF). The aim of this study was to improve the understanding of renal disease in patients with DS, focusing on the incidence and range of kidney and urological abnormalities in a population of DS patients. A cross-sectional study was carried out in DS patients referred from a pediatric genetics unit of a tertiary care center. Medical records were reviewed. A 24-h urine specimen and a blood sample were obtained. Fractional excretion of sodium and potassium, tubular reabsorption of phosphate, urinary excretion of calcium, magnesium, uric acid, creatinine clearance and proteinuria were determined. Ultrasound was performed to evaluate the kidneys and the urinary tract. Laboratory data were reviewed for any possible renal disorder. Sixty-nine patients, aged 12 months to 24 years, were recruited. Pathological findings included three cases of voiding disturbances and a case of hypertension in a 7-year old girl. Eight patients (11.6%) had hyperuricemia without gout. Eighteen patients (24.2%) had hyperuricosuria. Urinalysis revealed three cases of mild proteinuria and two patients with microscopic hematuria. Minor radiological abnormalities were found in five patients (7.3%). Three patients (4.5%) had CRF. Renal disease in patients with DS is not as rare as previously thought, although the majority of findings are of minor relevance. According to the variety of pathologies, and in order to detect early irreversible renal injury, it seems quite reasonable to perform regular monitoring of renal function in these patients.
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PMID:Renal involvement in Down syndrome. 1578 39

Following a previous note dealing with rickets, intestinal malabsorption, virus hepatitis and mongolism, the present paper deals with serum immunoglobulin behaviour in thymomegaly, nephrosis and response to TAB vaccination. Thymomegaly was accompanied by increases in all three Ig classes, followed by normalisation of values shortly after steroid treatment. in nephrotic proteinuria, determination of glomerular selectivity via the evaluation of IgG and transferrin clearance was of assistance with respect to prognosis and therapy. Artificial antigen stimulation of healthy and mongoloid subjects with TAB vaccine was not followed by differences in Ig class behaviour; similar stimulation of full-term and immature neonates, however, showed a rapid and frank increase in immature IgM values with respect to the non-stimulated immature subject of equal age and weight.
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PMID:[Serum immunoglobulin patterns in some diseases of infancy]. 1734 5

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent life- threatening, hereditary disease. ADPKD is more common than sickle cell anemia, cystic fibrosis, muscular dystrophy, hemophilia, Down's syndrome, and Huntington's disease combined. ADPKD is a multisystemic disorder characterized by the progressive development of renal cysts and marked renal enlargement. Structural and functional renal deterioration occurs in ADPKD patients and is the fourth leading cause of end-stage renal disease (ESRD) in adults. Aside from the renal manifestations, extrarenal structural abnormalities, such as liver cysts, cardiovascular abnormalities, and intracranial aneurysms may lead to morbidity and mortality. Recent studies have identified prognostic factors for progressive renal impairment including gender, race, age, proteinuria, hematuria, hypertension and increased left ventricular mass index (LVMI). Early diagnosis and better understanding of the pathophysiology of the disease provides the opportunity to aggressivly treat hypertension with renin-angiotensin-aldosterone system inhibitors and thereby potentially reduce LVMI, prevent cardiovascular morbidity and mortality and slow progression of the renal disease.
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PMID:Developments in the management of autosomal dominant polycystic kidney disease. 1872 45


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