1988
DOI: 10.1007/bf00862599
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Renal lesions in Cockayne syndrome

Abstract: Two siblings with typical features of the Cockayne syndrome were studied at autopsy. Many glomeruli revealed a paucity of capillary loops and had thickened capillary walls. Some glomeruli with advanced lesions showed collapse of the glomerular tufts or complete hyalinization. Atrophy of tubules and interstitial fibrosis were also observed. There were no significant arteriosclerotic changes in the vessels. Ultrastructural studies demonstrated thickened glomerular basement membranes with bends and folds. These h… Show more

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Cited by 20 publications
(21 citation statements)
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“…Hand or other tremors were reported in 8/14 children in this group and among severely affected children described in the literature [Ohno and Hirooka, 1966;Schmickel et al, 1977;Hirooka et al, 1988].…”
Section: Severe Csmentioning
confidence: 83%
See 1 more Smart Citation
“…Hand or other tremors were reported in 8/14 children in this group and among severely affected children described in the literature [Ohno and Hirooka, 1966;Schmickel et al, 1977;Hirooka et al, 1988].…”
Section: Severe Csmentioning
confidence: 83%
“…Occipitofrontal head circumference (OFC) data were available in eight children surveyed in this study and from 21 published case histories [Riggs and Seibert, 1972;Moyer et al, 1982;Levin et al, 1983;Leech et al, 1985;Hirooka et al, 1988;Nishio et al, 1988;Jaeken et al, 1989;Patton et al, 1989;Choong et al, 1997;Laugel et al, 2008b].…”
Section: Severe Csmentioning
confidence: 99%
“…Clinical manifestations include early development of changes in skin pigmentation, predisposition to UV radiation-induced skin cancer, progressive neurologic degeneration, developmental delay, short stature, and severe wasting. Although pulmonary disease has not been reported in patients with these rare inherited diseases, interstitial fibrosis of the renal parenchyma has been reported in patients with Cockayne syndrome (22). In patients with sporadic diseases, such as lung cancer, loss of heterozygosity for TFII-H p89 has been identified (23).…”
Section: Discussionmentioning
confidence: 99%
“…The effect of the R616G was also predicted to be deleterious by in silico algorithms; Polyphen2 (http://genetics.bwh.har vard.edu/pph2), SIFT (http://sift.bii.a-star.edu.sg/), and Mutation Taster (http://www.mutationtaster.org/). Nephrotic syndrome has been previously reported in several children with CS (Ohno and Hirooka 1966: Higginbottom et al 1979: Hirooka et al 1988: Sato et al 1988: Reiss et al 1996: Funaki et al 2006). All these children share the same pathological features of biopsied renal tissues, including thickening of the glomerular basement membrane and mesangium, collapse of capillary loops, hyalinization of glomeruli, tubular atrophy, and interstitial fibrosis.…”
mentioning
confidence: 90%
“…This suggests that the prognosis of CS depends on the management of renal failure throughout the long-term clinical course. There are some reports describing CS patients with complications such as renal failure, but their molecular backgrounds have not been described in their case studies (Ohno and Hirooka 1966: Higginbottom et al 1979: Hirooka et al 1988: Sato et al 1988: Reiss et al 1996: Funaki et al 2006.…”
Section: Introductionmentioning
confidence: 99%