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)

62 children (20 girls and 42 boys, ranging in age between 3 and 15 years), presenting with acute hypocomplementemic glomerulonephritis or morphologically confirmed endotheliomesangial glomerulonephritis, were admitted to the University Children's Hospital, Berne from 1970 to 1991. The annual incidence of cases of acute hypocomplementemic glomerulonephritis was stable during the study period. The site of the antecedent infection was the throat in 26 patients, upper respiratory tract in 15, the skin in 9, and unknown in 10. The latent period ranged from 0.5 to 3.5 weeks. 41 patients developed hypertension and 17 renal failure. Hypertensive complications were observed in 6 patients and remitted completely in 5 cases. A nephrotic syndrome (edema, proteinuria of 40 mg/[m2.h], albuminemia < 25 g/l) was observed in 11 patients. Microscopic hematuria persisted in many patients for one year or more. Proteinuria remitted in all but one patient, who was found to have Alport syndrome. This study shows the stable frequency of hypocomplementemic glomerulonephritis since 1970, its good prognosis, and the importance of the measurement of C3-complementemia in children presenting with acute glomerulonephritis.
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PMID:[Glomerulonephritis with transient C3 hypoclompimentemia and endotheliomesangial glomerulonephritis in childhood. A long-term experience]. 144 87

We report a case of Alport syndrome. The patient, a nine-year-old boy, showed macroscopic hematuria after an upper respiratory infection seven years ago. Microscopic hematuria with proteinuria was pointed out in routine urinalysis at school. He had no apparent familial history of either progressive renal diseases or deafness. Renal biopsy was performed at the age of eight, and he was diagnosed as focal segmental glomerulonephritis (mild) by light microscopy. Slight irregular thickening of the glomerular basement membrane (GBM) was observed focally by electron microscopy. Both light microscopy and electron microscopic examinations did not indicate a hereditary nephritis. The 28-kilodalton (kDa) monomers of the non-collagenous globular domain (NC-1) of type IV collagen were absent along renal glomerular capillary walls from the patient by indirect immunofluorescence while they were normally observed in glomerular capillary walls from healthy subjects and patients with a variety of non-hereditary glomerulonephritis. It was suggested that immunofluorescence using a monoclonal antibody for the NC-1 domain of type IV collagen is useful in the precise diagnosis of the patients with Alport syndrome.
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PMID:[A case of Alport syndrome diagnosed by immunofluorescence using a newly defined monoclonal antibody]. 219 29

Camostat mesilate, a developed derivative of gabexate mesilate for oral use, was administered in a daily dose of 600 mg for 4 weeks to 17 patients with heavy proteinuria due to various nephropathies. Five patients had glomerulonephritis (3 patients with IgA nephropathy, one each with membranoproliferative GN and membranous nephropathy) and 3 had systemic vasculitis. These patients had been treated with glucocorticoid, cyclophosphamide, anticoagulants, and dipyridamole. Five patients had diabetic nephropathy and had been treated with conventional therapy including angiotensin converting enzyme inhibitors. Two cases with benign nephrosclerosis, one with Alport syndrome, and the rest with end-stage renal failure of undetermined cause were also included in this study. Urinary protein decreased promptly within 2 weeks (from 5.2 +/- 0.7 to 3.5 +/- 0.5, mean +/- SE, p less than 0.005), and serum total protein and albumin levels increased significantly. Serum creatinine levels did not change. Decreases in urinary protein excretion of more than 50% were observed in five out of eight patients with glomerulonephritis or systemic vasculitis, two out of five with diabetic nephropathy, and one with chronic renal failure. However, urinary protein excretion values remained at the same level in two patients with benign nephrosclerosis and a patient with Alport syndrome. We suggest that camostat mesilate caused a change in glomerular capillary permeability for macromolecules through its inhibitory effects on the kallikrein-kinin system, complement system, coagulation system, and platelet function, which contributed to the treatment of the various nephropathies.
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PMID:Effect of camostat mesilate on heavy proteinuria in various nephropathies. 279 62

A familial predisposed diffuse nephropathy is described in three adult patients--brothers, combined with hearing abatement--receiver type--in two of them. Typical gout was also found in them, that is difficult to associate with the azotemia. It was admitted that it concerns the Alport syndrome in adults, developing with certain peculiarities, advanced patient age, disturbances of purine metabolism, moderately selective proteinuria of glomercultubular type and chromosome aberration--thresomia of F chromosome.
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PMID:[Hereditary nephritis with bearing loss of the receiver type (Alport's syndrome) with a description of 2 cases]. 446 73

In this report, we describe a case of 14-year-old girl with Charcot-Marie-Tooth (CMT) disease and the nephropathy which was characterized by heavy proteinuria and microscopic hematuria. She progressed to renal failure with clinical duration of 4 years from the onset of disease. Renal biopsy specimens revealed the features of focal segmental glomerulosclerosis (FSGS). The patient has also a bilateral sensorineural deafness. Although the clinical features show similarities to those of the Alport syndrome, electron microscopic examination did not disclose the glomerular basement membrane changes which were characteristic of the Alport syndrome. The association of nephropathy with CMT disease is discussed, as compared with previous report.
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PMID:Nephropathy associated with Charcot-Marie-Tooth disease. 649 Mar 24

To investigate whether proteinuria and focal glomerulosclerosis (FSG) might develop in humans as well as in experimental models following a reduction in renal mass, we performed a retrospective study of 24 patients previously nephrectomized for unilateral renal disease. None of the patients presented signs of systemic diseases. Alport syndrome, essential hypertension, reflux nephropathy, and other abnormalities on intravenous pyelography. At the time of the first observation seven patients had pathological proteinuria (group 1) while 17 presented a normal protein excretion (group 2). All patients in group 1 and only 4 of 17 in group 2 were male. No other significant differences were found between the two groups. The median age at nephrectomy of the proteinuric patients was 22.3 years, and proteinuria developed after a mean period of 12.2 years. A renal biopsy was performed in four patients and showed a constant pattern of FSG. After a mean follow-up period of 7.3 years from the onset, proteinuria remains unchanged and renal function is well preserved in all the patients. In conclusion our series suggests that also in humans proteinuria and FSG might appear in solitary kidneys due to nephrectomy. This glomerular damage may result from the association of glomerular overload with other unidentified factors.
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PMID:Focal glomerulosclerosis in patients with unilateral nephrectomy. 666 87

Previous reviews of hematuria in children and adolescents have included patients with proteinuria and other renal functional abnormalities such as hypertension and reduced GFR. We report the clinico-pathological correlations in 76 pediatric patients, aged 3 to 19 years, who underwent a renal biopsy because of isolated hematuria during the 10-year period, 1972 to 1981. All specimens were examined by light and electron microscopy and immunofluorescence techniques. The overall prevalence of abnormal renal histology was 56%. The vast majority (41 of 43) of the abnormal biopsy specimens could be classified into four distinct histological categories: (1) Alport syndrome (N = 9); (2) IgA nephropathy (N = 8); (3) thinning of the glomerular basement membrane (N = 17); (4) vascular C3 staining (N = 7). The children were divided into three clinical subgroups (1) isolated microscopic hematuria ( IMH ), N = 42; (2) IMH plus a family history of hematuria in a first degree relative, N = 15; and (3) IMH plus at least one episode of gross hematuria, N = 19. A significant graded increase in the likelihood of obtaining an abnormal renal biopsy was demonstrated (X2 = 10, P less than 0.007) from groups one to three. Sex, age at onset, or duration of hematuria were not associated with an increased proportion of histopathologic abnormalities. These findings indicate that the yield of a renal biopsy in children with isolated hematuria can be predicted accurately from specific clinical characteristics.
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PMID:Isolated hematuria in children: indications for a renal biopsy. 672 31

In 32 patients from 27 families affected with hereditary neophropathy (Alport syndrome) the glomerular basement membranes were examined electron microscopically and the percentage of characteristically split and thin basement membrane portions was determined. The clinical course was more severe in males which corresponded with a higher rate of basement membrane alterations: on an average in males 61% split and 6% thin but only 18% split and 21% thin in females. The splitting lesion increased with age in males but not so in females. There were also indications for a possible positive correlation of the splitting lesion and the grade of proteinuria. Compared with the splitting lesion basement membrane thinning seemed to be of minor importance.
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PMID:Hereditary nephropathy (Alport syndrome): correlation of clinical data with glomerular basement membrane alterations. 739 44

Renal transplantation from living donor parents was performed in two brothers with end-stage renal failure due to Alport syndrome (AS). Two years later, the patient receiving the kidney graft from the mother, obligate carrier of AS, presented persistent microhematuria and proteinuria with normal renal function. The histological study demonstrated ultrastructural glomerular lesions consistent with AS. The authors conclude that: (1) Alport patients should not be deprived of renal transplantation from living donors, since anti-GBM nephritis is a rare complication; (2) an oligosymptomatic female carrier of the Alport gene may be considered as living renal donor, although a longer follow-up is needed in order to draw definitive conclusions.
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PMID:Renal transplantation from living donor parents in two brothers with Alport syndrome. Can asymptomatic female carriers of the Alport gene be accepted as kidney donors? 761 88

Autosomal recessive Alport syndrome can arise from a mutation in either of the genes COL4A3 and COL4A4 on chromosome 2, which encode, respectively, the alpha 3 and alpha 4 chains of Type IV collagen. This report describes a mutation in COL4A3 in a girl who presented at age 5 with hematuria and proteinuria, lacking any family history of renal disease. Renal biopsy at age 8 showed immunoglobulin A nephropathy and Alport syndrome. Sensorineural deafness developed during adolescence, and the patient's renal disease progressed to terminal renal failure by age 20. She received a living related donor renal allograft at age 20 and developed antiglomerular basement membrane nephritis of the allograft 8 months after transplantation. Amplification and sequencing of exon 5 of COL4A3 (counting from the 3' end of the gene) revealed a 7-base-pair deletion, producing a shift of the reading frame and the creation of a premature stop codon. Each parent was heterozygous for the normal and mutant exon 5 sequences. This mutation in COL4A3 would result in the loss of 222 amino acids from the carboxy-terminal noncollagenous domain of the alpha 3(IV) chain. The mutant chain would be unable to form trimers with other Type IV collagen alpha chains. In addition, the mutant chain would lack the Goodpasture epitope, which resides in the carboxy-terminal noncollagenous domain of the alpha 3(IV) chain. The absence of this epitope may underly the subsequent development of anti-glomerular basement membrane nephritis in the allograft.
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PMID:Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. 778 62


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