1/7. Ocular pathology of Lowe's syndrome in a female infant.The ocular pathologic findings are presented in a case of a female infant with clinical and biochemical evidence of Lowe's syndrome. A small but increasing number of reports suggest that the mode of inheritance is not always sex-linked. The ocular histopathologic findings in the present case parallel those previously described for this syndrome. While the pathologic findings in other systems are variable, it is thought that the constellation of lens and anterior segment changes are sufficiently characteristic to identify cases of Lowe's syndrome.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
2/7. Lowe's syndrome: identification of carriers by lens examination.Lens examinations were performed on 7 obligate and 7 possible carriers of the X-linked gene for Lowe's syndrome, and on 117 controls. By quantitatively grading punctate cortical opacities, it was possible to discriminate between the obligate carriers and the controls with a fair degree of confidence. In the age group most important for genetic counselling, that of child bearing, the data are too limited for the derivation of precise estimates, but may, nevertheless, be useful. More such data are needed.- - - - - - - - - - ranking = 4keywords = dent (Clic here for more details about this article) |
3/7. Dent's disease: identification of a novel mutation in the renal chloride channel CLCN5.Dent's disease is an inherited tubulopathy caused by a mutation in the CLCN5 chloride channel gene. It is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis or nephrocalcinosis, rickets and eventual-progressive renal failure. Onset of clinical symptoms show a great variability, making a diagnosis at an early stage of the disease often difficult. Given the variably clinical picture, genetic analysis can provide a reliable method to confirm the diagnosis. Here, we report on the case of a patient with progressive renal failure showing signs of a tubular lesion and symptoms of Dent's disease. Although this rare disease was suspected by means of the clinical features, it was genetic analysis that confirmed the diagnosis and revealed a novel mutation in the CLCN5 gene.- - - - - - - - - - ranking = 4keywords = dent (Clic here for more details about this article) |
4/7. Hyperglycinuria with nephrolithiasis.The case of a seven and a half-year-old girl with hyperglycinuria, oxalate nephrolithiasis, and a normal plasma amino acid pattern is presented. Hyperglycinuria amounted to 400 mg of glycine in 24 h urine and the stone was composed of calcium oxalate dihydrate. The metabolic relationship between glycine and oxalate is discussed. It is possible that the association of nephrolithiasis and hyperglycinuria was coincidental, although the case of familial hyperglycinuria with nephrolithiasis reported by De Vries and collaborators and our case suggest the possibility of a relationship between the aforesaid compounds in vivo.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
5/7. Arthropathy of Lowe's (oculocerebrorenal) syndrome.We describe 3 children with Lowe's syndrome who developed joint manifestations--a previously rarely recognized feature. Two children had swelling and contractures of large and small joints; the third child had a small joint effusion and hypermobile joints. None of them had antinuclear antibody or rheumatoid factor; synovial effusions and biopsies showed no evidence of inflammatory cell infiltration. By light microscopy, profuse fibrous tissue and sparse synovial lining cells were found. Electron microscopy of the synovium of 2 patients showed large amounts of normal appearing collagen, unidentified thin fibrils, and focal profuse granular and fibrillar basement membrane-like material around small vessels, similar to findings described in other tissues in this syndrome. Whether these clinical and pathologic findings are results of the still incompletely understood basic metabolic defect or not, they should be recognized as features that may be seen in patients with Lowe's syndrome.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
6/7. Lowe's syndrome.The histopathological manifestations in four eyes from two male patients with the oculo-cerebro-renal syndrome of Lowe included a small, discoid, cataractous lens, peculiar capsular and epithelial changes with aberrant formation of collagenous fibrous tissue, polar lenticular changes with anterior vitreous condensation, embryonic anterior chamber angle with anterior displacement of rudimentary ciliary processes, segmental hypoplasia of iris dilator muscle, and Lange's folds with peripheral retinal cystoid changes. Additional findings in one of the cases included bilateral corneal keloids, vitreous organization, hyalinized retinal vessels, and mild gliosis. We suggest that the congenital ocular abnormalities in Lowe's syndrome are related to an as yet unidentified, inherited enzymatic and/or biochemical defect, and that they progress further because of an abnormal aqueous humour environment. The role of aminoaciduria and mucopolysaccharidosis in the pathogenesis of systemic and ocular defects is discussed in the light of recent investigations.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
7/7. Urinary acid glycosaminoglycans in a patient with oculo-cerebro-renal syndrome.An 18-year-old boy with oculo-cerebro-renal syndrome excreted a large amount of acid glycosaminoglycans in urine. The identification and characterization of the acid glycosaminoglycans were carried out by the methods of preparative column electrophoresis, ion exchange chromatography, gelfiltration, paper chromatography of the chondroitinase digests and chemical analysis. On admission to hospital, the main components of the urinary acid glycosaminoglycans were undersulfated chondroitin 4-sulfate of large molecular weight and heparan sulfate. Three months after oral administration of the supplement of alkali, the excretion of heparan sulfate and the molecular size of chondroitin 4-sulfate decreased significantly, although the amount of urinary acid glycosaminoglycans remained at a high level (about 25 mg/day). The decrease of heparan sulfate and the shift to a smaller molecule of chondroitin 4-sulfate were coincident with the improvement in clinical and laboratory findings. These results suggest that the abnormal metabolism of acid glycosaminoglycans is a characteristic manifestation in this case and the studies on ground substance metabolism might be an important approach to the pathogenesis of this syndrome.- - - - - - - - - - ranking = 2keywords = dent (Clic here for more details about this article) |