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)

One case of lecithin cholesterol acyltransferase (LCAT) deficiency is discovered by renal biopsy. Through the study of a French family, native to Brittany, one sister is found to be carrier of the trait. This finding suggests that the gene defect hitherto reported from Scandinavia is not restricted to this region. The patient shows typical signs of the disease, corneal opacities, anemia with a hemolytic component and lack of plasma LCAT activity. She has proteinuria, HTA, hematuria, no renal insufficiency. Signs previously unreported were noted: sensorineural hearing loss and platelet environment disorder. Histological abnormalities of two types are found: foam cells and subendothelial deposits, of which the tinctorial characteristics indicate a lipid composition. The lack of glomerular fluorescent staining observed is not in favor of an immune complex nephropathy. The study of this case suggests the determining role of lipid abnormalities in the genesis of anemia and of the vascular depositions in the induction of renal failure encountered in several cases of LCAT deficiency.
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PMID:Hereditary lecithin cholesterol acyltransferase deficiency. Report of a new family with two afflicted sisters. 63 18

A 14-year-old boy with persistent proteinuria (1.6-4.0 g/day), microscopic haematuria, moderate hypertension, macrothrombocytopenia (giant platelets, platelet number 30 x 10(9)/l) and a familial sensorineural hearing loss (the father and the brother were also affected) was studied. Kidney biopsy revealed a diffuse mesangial proliferation, and a focal thickening of the glomerular basement membrane was seen on electron microscopy. A normal number of megakaryocytes was observed in bone marrow aspirates. The aggregation response of the platelets to collagen, epinephrine and adenosine diphosphate (ADP) was decreased. The platelet number was slightly diminished, platelets were of normal size in both parents and the brother, and showed a decreased aggregability in response to collagen, epinephrine and ADP in the brother and mother. No functional abnormality of the platelets was observed in the father. Urinalysis and kidney function were normal in the family members. This boy with nephritis, platelet disorders and hearing loss corresponds to Epstein's syndrome.
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PMID:Hereditary nephritis, platelet disorders and deafness-Epstein's syndrome. 153 37

A 14 years old boy with persistent proteinuria (1.6-4.0 g/day), microscopic haematuria, macrothrombocytopenia (giant platelets, platelet number 30 G/l), and a familial sensorineural hearing loss (the father and the brother were also affected) was studied. Kidney biopsy presented a diffuse mesangial proliferation, and a focal thickening of the glomerular basement membrane was seen on electron microscopy. With bone marrow aspiration normal number of megacaryocytes was observed. The aggregation response of the platelets was decreased on collagen, epinephrine and ADP but it was normal on aggristin. The presented case with nephritis, platelet disorders and hearing loss corresponds to Epstein syndrome, a variant of Alport's syndrome.
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PMID:[Macrothrombopenia, nephritis and hearing loss--a new case of Epstein syndrome]. 188 66

A 7-year-old boy presented with a history of postprandial vomiting, failure to thrive, hematuria, proteinuria and decreased renal function. Electron microscopy of a renal biopsy specimen demonstrated the typical glomerular basement membrane changes associated with Alport's syndrome. Audiometry revealed a moderate bilateral high-tone sensorineural hearing loss. Bilateral anterior lenticonus and a unilateral cataract were also diagnosed. Achalasia diagnosed radiologically and confirmed by biopsy was corrected by surgery. Evaluations of the parents and three siblings were negative. The patient subsequently developed end-stage renal failure. This case report and a review of the literature suggest that achalasia may be part of Alport's syndrome in some patients.
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PMID:Alport's syndrome and achalasia. 315 32

Twenty-eight patients aged from 18 mo. to 23 y. (at the onset of the diseases) affected by Alport's syndrome (AS), were studied during last 15 years. The mean time of observation was 10 +/- 0.7 years. Two cases progressed to renal failure at 15 and 21 years respectively, while 26 patients have normal renal function within the 2a decade of life. The diagnosis of hereditary nephritis (AS) was based on the following criteria: Existence of affected kindred. Perceptive deafness. Basal membrane ultrastructural abnormalities. A late exact diagnosis was made in some patients without ascertainable familiarity and without early ultrastructural glomerular study. Perceptive deafness occurred chiefly after 6-8 years of life, increasing the diagnostic difficulties. Isolated hematuria was present in 18 cases (64%) and associated proteinuria (or NS) in 10 (36%). Recurrent otitis media worsened the hearing loss in 5 cases (17.83%). An immuno-allergologic study was carried out because of the great frequency of allergic diseases, respiratory mainly. A significative decrease of plasmatic and secretory IgA was observed in those patients who underwent to recurrent otitis media. The features suggestive of AS in our patients, in addition to the familiarity, were gross haematuria in childhood and diffuse GBM splitting and splintering. Heavy proteinuria and nephrotic syndrome associated to early deafness and to male sex indicate a poor prognosis; but several females also can be affected by serious course of the disease.
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PMID:[Alport syndrome: 15-year follow-up in 28 cases]. 378 95

Epstein's triad which is a syndrome with the combination of macrothrombocytopenia, deafness and nephritis, is similar to Alport's syndrome. We report on a case of Epstein syndrome and describe the results of morphological examination of a renal biopsy, specimen. The patient was a 14-year-old girl with the diagnosis of chronic idiopathic thrombocytopenic purpura that had preseated from the age of 3 years. She was referred to Daisan Hospital of the Jikei University School of Medicine on April 1, 1991 for refractory thrombocytopenia. She had shown sensorineural hearing loss since the age of 6 years and her peripheral blood smear revealed giant platelets on admission. She was treated with interferon, prednisolone, and high-dose gamma-globulin (400 mg/day x 5 days). However, the platelet count did not increase, but hypermenorrhea continued. She subsequently showed proteinuria and hematuria. She underwent splenectomy and renal biopsy on August 12, 1992. The glomeruli appeared to be almost normal under light microscopy. The interstitium showed regional fibrosis containing foam cells and the renal tubuli showed mild atrophy. Under electronmicroscopy, the basement membrane of the glomeruli was associated with mesangial interposition and the lamina densa was split into several layers. These ultrastructural findings were compatible with those of Alport's syndrome.
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PMID:[A case report of Epstein syndrome]. 769 56

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

Alport syndrome is a hereditary progressive glomerular basement membrane disorder in which juvenile-or adult-onset renal failure is often accompanied by sensorineural deafness and ocular abnormalities. Recently, mutations have been found in the type IV collagen alpha 5 chain gene in patients with X-linked Alport syndrome. This study searched for gene mutations in seven unrelated Japanese patients by the use of conventional Southern blot analysis with cDNA probes for the carboxyl-terminal noncollagenous domain that is encoded by exons 46 to 51. A deletion mutation was found in a patient who developed juvenile-onset (age 15) ESRD with typical ultrastructural glomerular basement membrane destruction and sensorineural hearing loss but no characteristic ocular abnormalities. His mother showed hematuria and proteinuria with normal renal function, suggesting that she may be the heterozygous carrier. Exon-specific polymerase chain reaction amplified the coding sequence of exon 48 but not exons 49 to 51. Analysis with pulsed-field gel electrophoresis revealed that the deletion is approximately 10 kb in length and does not involve the CpG island, which is located in the 3' distal site of the gene. Identification of this novel deletion causing juvenile-type Alport syndrome would contribute to elucidating the mechanisms of renal failure progression in the syndrome.
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PMID:A deletion mutation in the 3' end of the alpha 5(IV) collagen gene in juvenile-onset Alport syndrome. 801 73

The proband was a 14-year-old girl with hematuria and proteinuria. Many members of her maternal pedigree had hematuria and proteinuria. Her mother, younger brother (age 12 years) and younger sister (age 9 years) had microscopic hematuria and proteinuria with normal renal function. Her mother had nephrotic syndrome during pregnancy and a renal biopsy was performed. Light microscopic findings of the renal biopsy specimen revealed mild mesangial proliferation and irregularity of glomerular basement membrane. The pedigree showed no chronic renal failure and no deafness. The proband had experienced microscopic hematuria and occasionally macroscopic hematuria since 3 years of age. Proteinuria increased steadily and at the age of 14 years, she had nephrotic syndrome and renal dysfunction (creatinine clearance of 57.9 ml/min/1.48 m2). Renal biopsy was performed and light microscopic findings showed segmental mesangial cell proliferation and numerous interstitial foam cells without significant findings by immunofluorescent study. Electron microscopic examination showed splitting into many layers and thinning of the glomerular basement membrane. She had no complaint of hearing. However, audiological studies detected bilateral low-tone (from 125 Hz to 1000 Hz) sensorineural hearing difficulty, ranging from 30 to 40 dB. High scores on the short increment sensitivity index (SISI) test suggested inner ear hearing difficulty. Audiogram of her brother revealed also low-tone sensorineural hearing loss. Hereditary nephritis with the characteristic lesion of the glomerular basement membrane and sensorineural hearing difficulty has been known as Alport syndrome. Alport syndrome associated with familial low-tone hearing difficulty has not been reported previously.
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PMID:Hereditary nephritis associated with low-tone sensorineural hearing difficulty: a case report. 869 14

We report on an 11-year-old boy with distinct facial anomalies, iris coloboma, iris hypoplasia, cataract, high myopia, retinal detachment, moderate sensorineural hearing loss, and proteinuria. He appears to have the facio-oculo-acoustico-renal (FOAR) syndrome, a rare familial disorder reported only 4 times previously. In contrast to the other patients, he has normal intellect.
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PMID:Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review. 906 82


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