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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alport syndrome (AS) is an hereditary glomerulonephritis that is mainly inherited as a dominant X-linked trait. Structural abnormalities in the type IV collagen alpha 5 chain gene (COL4A5), which maps to Xq22, have recently been detected in several patients with AS. The association of AS with diffuse esophageal leiomyomatosis (DL) has been reported in 24 patients, most of them also suffering from congenital cataract. The mode of transmission and the location of the gene(s) involved in this association have not been elucidated. Southern blotting using cDNA probes spanning the whole COL4A5 and a 5' end COL4A5 genomic probe showed that three out of three patients with the DL-AS association had a deletion in the 5' part of the COL4A5 gene extending beyond its 5' end. This indicates that the same gene, COL4A5, is involved in classical AS and in DL-AS and that the transmission of DL-AS is X-linked dominant. These results also suggest that leiomyomatosis might be due to the alteration of a second gene involved in smooth muscle cell proliferation, which is located upstream of the COL4A5 gene, and that there might be a contiguous gene deletion syndrome, involving at least the genes coding for congenital cataract, DL and AS.
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PMID:Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene. 145 2

Diffuse leiomyomatosis of the esophagus is a rare affection which is characterized by a diffuse hypertrophy of esophageal muscles, without involvement of the muscularis mucosae. This disease involves children and young adults, occasionally associated with other localisations of leiomyomatosis. The case of a 21 year old female, successfully treated by total esophagectomy, is reported herein. In this patient, proteinuria and hematuria led to the discussion of an aspect of Alport's syndrome which is characterized by association of leiomyomatosis, deafness, cataract, and hematuria.
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PMID:[Diffuse leiomyomatosis of the esophagus. Analysis of a case and review of the literature]. 148 60

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

The ultrastructure of the glomerular basement membrane in Alport's syndrome is well known and characteristic of this disease, but the anterior lenticonus that frequently occurs in this syndrome has not been similarly studied. An anterior lens capsule from a 30-year-old patient with lenticonus who had Alport's syndrome was obtained at capsulectomy and found to be one third the normal thickness centrally and to be more fibrillar than usual. There were large numbers of partial capsular dehiscences containing fibrillar material and vacuoles. Cellular debris and more recent ruptures of lens epithelial cell membranes underlaid the breaks. The anterior capsule is clearly fragile in this disease, forming the basis for the progressive lenticonus and anterior polar cataract. These abnormalities correlate well with a defect in the type IV collagen molecule, as has been recently reported in Alport's syndrome.
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PMID:Lens capsule abnormalities in Alport's syndrome. 368 94

The authors describe a family in which the mother and one son are affected by oesophageal leiomyomatosis and nephritis with haematuria. The mother also presents hypertrophy of vulva and clitoris, and her son has perceptive deafness and congenital cataract. In the medical literature only 15 cases of oesophageal leiomyomatosis in children and adolescents could be found. The association with Alport's syndrome was first described by Torres and Guarner in 1983.
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PMID:[Familial esophageal leiomyomatosis associated with Alport's syndrome in a 9-year-old boy]. 379 12

The ocular manifestations in 16 patients with Alport's syndrome were lenticonus and retinal flecks in the macula and mid periphery. These 3 features appear to be specific for this syndrome and are a considerable aid to diagnosis. Lens opacities are common, and other ocular abnormalities occur sporadically. The present evidence indicates that this is a hereditary, widespread disorder of basement membrane, and it is suggested that ophthalmologists may contribute to the further understanding of it by directing attention towards analysis of the lens capsule after cataract extraction. The similarity of the retinopathy to that of fundus albipunctatus is noted, and it is suggested that the latter condition should not be diagnosed in the absence of renal investigation and audiometry.
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PMID:Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes? 687 Nov 40

Sebastian platelet syndrome is an hereditary thrombocytopenia with giant platelets and inclusion bodies in the granulocytes consisting of dispersed filaments, clusters of ribosomes and a few segments of rough and smooth endoplasmic reticulum at the ultrastructural level, similar to those observed in Fechtner syndrome (a variant of the Alport syndrome)--Sebastian platelet syndrome lacks the additional clinical features such as high frequency deafness, congenital cataract, and chronic interstitial nephritis. Here we report the fourth case worldwide and the first of an Arabian ancestry.
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PMID:The Sebastian platelet syndrome. Report of the first native Saudi Arabian patient. 756 53

We describe bilateral phacoemulsification and implantation of foldable silicone intraocular lenses in a 25-year-old woman with Alport's syndrome and severe anterior lenticonus. Contrary to previous reports of lens capsule fragility in Alport's syndrome, this patient had relatively tough capsules, as do most patients her age. Apart from the tough capsules and positive pressure, which required the use of a viscoelastic to maintain the anterior chamber, the surgeries were unremarkable. The patient achieved excellent visual and refractive results.
J Cataract Refract Surg 1994 Nov
PMID:Clear lens extraction and intraocular lens implantation in a patient with bilateral anterior lenticonus secondary to Alport's syndrome. 852 71

Alport-leiomyomatosis syndrome is a polygenic syndrome with a dominant X-linked inheritance pattern resulting from a large deletion in the 5' end of the COL4A5 gene coding for the type IV collagen alpha 5 chains. Hypothetically, the deletion extends beyond the 5' end and probably includes a second contiguous gene responsible for leiomyomatosis (the DL gene) and even a third one coding for congenital cataract (the CCT gene).
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PMID:Alport-leiomyomatosis syndrome: an update. 823 8

Sixty-three patients, (52 males and 11 females) from 28 kindreds of hereditary nephritis (Alport's syndrome) were identified over a 14-year period from 1977 to 1991. Group I included 51 patients with (a) positive family history of haematuria with or without chronic renal failure, (b) characteristic GBM changes on electron-microscopy, (c) characteristic ocular signs, and (d) high-frequency sensorineural deafness. Group II included 12 patients with a negative family history. All of them had evidence of renal disease with characteristic ocular signs and deafness and four had characteristic GBM changes on electron-microscopy. The main clinical features were haematuria in 96.8%, deafness in 82.5%, and diminished visual acuity in 66.7% of affected subjects. Hypertension was present in 71.4% patients. Pure tone audiometry revealed high-frequency sensorineural deafness in 96.8%. Ocular examination showed bilateral anterior lenticonus in 37.8%, retinal flecks in 22.2%, cataract in 20%, and keratoconus in 6.7% patients. Proteinuria (> 2.0 g/24 h) was detected in 31.8%. Sixteen (57.1%) of the 28 index patients (all males) were diagnosed for the first time when they presented with end-stage renal disease. Serum creatinine in the overall group ranged from 0.9 to 18.7 mg/dl(7.81 +/- 5.37 mg/dl). Adequate renal tissue was obtained by biopsy in 14 patients. Light-microscopy revealed focal segmental glomerulosclerosis in five, mesangial proliferation in four, chronic interstitial nephritis in three, and mesangiocapillary and crescentic glomerulonephritis in one each. Electron-microscopy showed characteristic changes in the GBM in seven specimens.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Hereditary nephritis (Alport's syndrome)--clinical profile and inheritance in 28 kindreds. 841 53


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