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)

Thirteen patients (7 males, 6 females, aged 17-68 years) affected by primary, steroid-resistant, nephrotic syndrome and normal renal function were treated with a vegan, low-protein (0.7 g/kg per day) diet supplemented with essential amino acids and Ketoanalogues (VSD) for 3.9 +/- 2.9 months. These patients were studied at the beginning (following an unrestricted protein diet (UPD) supplying about 1 g/kg per day of mixed proteins) and at the end of VSD period. Urinary protein excretion decreased from 8.7 +/- 2.6 to 5.6 +/- 2.4 g/day (P less than 0.01), serum total cholesterol from 334.6 +/- 97.1 to 275.6 +/- 49.4 mg/dl (P less than 0.05). Serum albumin, HDL-cholesterol, triglycerides, and anthropometric measurements (triceps skinfold thickness and middle arm muscle circumference) did not change. Urinary urea nitrogen decreased from 7.5 +/- 1.8 to 3.8 +/- 1.2 g/day (P less than 0.005), according to dietary prescriptions. Creatinine clearance changed from 104.4 +/- 28.7 to 89.3 +/- 16.7 ml/min (n.s.) and no correlation was found with the changes in urinary protein excretion. This data suggest that VSD reduces proteinuria and exerts favourable effects on hypercholesterolaemia. Protein malnutrition was absent in these patients, probably because of the essential amino acids and ketoanalogues supplementation.
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PMID:Vegan supplemented diet in nephrotic syndrome. 212 67

A 16-year-old female with acro-renal-ocular syndrome complicated by ventricular septal defect is described. Renal biopsy was performed for the first time in this syndrome, and the results suggested that proteinuria and renal dysfunction were caused by chronic pyelonephritis secondary to malrotation of the kidney and anomalous pelves. Chronic renal failure and hypoplasia of the optic papillae were also observed in the patient's mother, suggesting a participation of heredity in the pathogenesis of the syndrome.
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PMID:Nature of renal involvement in the acro-renal-ocular syndrome. 264 60

Mutations in the gene NPHS2 encoding podocin are responsible for a recessive form of steroid-resistant nephrotic syndrome (SRNS). The common phenotype is of massive proteinuria in early childhood that tends to progress to end-stage renal failure. Extrarenal manifestations have not been described. Twenty-two children with SRNS from six unrelated Arab families were found to be homozygous for the R138X mutation in NPHS2. Eighteen patients underwent cardiac evaluation at diagnosis of SRNS while they had normal BP and preserved renal function. Cardiac anomalies were detected in 16 (89%) children: Left ventricular hypertrophy in eight, pulmonary stenosis in six, discrete subaortic stenosis in two, and Ebstein anomaly and ventricular septal defect in one each. The remaining four affected individuals were assessed only once they had end-stage renal failure. They had severe left ventricular hypertrophy and experienced repeated episodes of heart failure. Two control groups were equally evaluated. The first consisted of 37 siblings without nephrotic syndrome, of whom only one carrier had a cardiac defect (P < 0.001). None of the second group, which included 22 children with persistent nephrotic syndrome as a result of other causes, had a cardiac anomaly (P < 0.001). Cardiac disorders in homozygotes for mutations in NPHS2 cannot be attributed to an association by chance or to a state of persistent nephrotic syndrome. Because human podocin mRNA is expressed in fetal heart, it is speculated that it may have a role in normal cardiac development. Cardiac evaluation is recommended at the time of diagnosis of SRNS due to mutations in podocin.
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PMID:The heart of children with steroid-resistant nephrotic syndrome: is it all podocin? 1629 39

Renal manifestations associated with infective endocarditis (IE) may present with different clinical patterns, and the most common renal histopathological finding is diffuse proliferative and exudative type of glomerulonephritis, leading to hematuria and/or proteinuria. Renal failure due to crescentic glomerulonephritis (CGN) in children with IE is a very rare condition. We report here a 6-year-old boy, who had a history of cardiac surgery for pulmonary atresia and ventricular septal defect, presenting with the clinical findings of IE and hematuria associated with renal failure due to CGN. He was treated with a combination of intravenous (IV) methylprednisolone pulses and appropriate antibiotics, but also received one dose of IV cyclophosphamide. Complete serological, biochemical, and clinical improvement was achieved after 2 months of follow-up. Antibiotic therapy is the essential part of the treatment of IE-associated glomerulonephritis; however, this case also highlights the importance of aggressive immunosuppressive therapy to suppress the immunological process related with infection in this life-threatening condition leading to renal failure.
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PMID:Crescentic glomerulonephritis in a child with infective endocarditis. 1670 79

Renal involvement in infective endocarditis (IE) may manifest with different clinical patterns, including diffuse proliferative glomerulonephritis and crescentic glomerulonephritis, which may lead to haematuria and/or proteinuria. However, severe acute kidney injury (AKI) in such cases is extremely uncommon and is reported mostly in adults. Two children with rheumatic heart disease and a peri-membranous ventricular septal defect, respectively, who developed haematuria, proteinuria and severe AKI in association with IE are reported. The first case had diffuse proliferative glomerulonephritis with 10% cellular crescents, and made a complete renal recovery with antibiotics and intravenous methylprednisolone followed by oral prednisolone. However, the second case had severe crescentic glomerulonephritis which led to residual renal injury despite intravenous methylprednisolone and cyclophosphamide in combination with antibiotics. The cases illustrate that crescentic glomerulonephritis or severe diffuse proliferative glomerulonephritis should be considered as possible complications in children presenting with haematuria, proteinuria and severe AKI. Renal biopsy along with antibiotic therapy and prompt immunosuppressive therapy should be considered for the management of this potentially life-threatening condition.
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PMID:Severe acute kidney injury in children owing to infective endocarditis-associated immune complex glomerulonephritis: a report of two cases. 2707 35

Schimke immuno-osseous dysplasia (SIOD) is a rare inherited disease characterized by steroid resistant nephrotic syndrome, spondyloepiphyseal dysplasia, and T-cell immunodeficiency. Focal segmental glomerulosclerosis (FSGS) is the most frequent renal pathological finding associated with proteinuria in SIOD. In this case report, we describe a 4.5-year-old boy who presented with nephrotic syndrome and ventricular septal defect followed by tremor in the limbs after-cerebral infarction. It is emphasized that SIOD should be considered in children with wide range of presentation, from growth retardation, steroid resistant nephrotic syndrome, and bone, cardiac, and neurological abnormalities in the late childhood or even adolescence.
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PMID:Schimke Immuno-osseous Dysplasia: A Case Report. 3142 66