Familial Renal-Retinal Dystrophy

Senior, Boris

doi:10.1001/archpedi.1973.04160030094021

Cited by 22 publications

(6 citation statements)

References 26 publications

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“…Fanconi's original report established that there was a familial tendency. Since then an association with defective vision and retinal dystrophy has been frequently recognized (Senior, 1973;Betts and Forrest-Hay, 1973). There was no evidence of retinal changes in the present case, but there were two additional features which have only recently been found in association with juvenile nephronophthisis.…”

Section: Discussionsupporting

confidence: 49%

“…Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities Juvenile nephronophthisis associated with retinitis pigmentosa was first described by Senior, Friedmann, and Braudo in 1961, and a number of cases have been reported since (Meier and Hess, 1965;Betts and Forrest-Hay, 1973;Senior, 1973). Besides the renal and ocular abnormalities, mental retardation, chromosomal defects, and skeletal abnormalities have been observed in some patients (Fontaine et al, 1970;Sarles et al, 1968;Antoine et al, 1963), but the association of interstitial nephritis, retinitis pigmentosa, cerebellar ataxia, and endochondral dysostosis was first recorded by Mainzer et al (1970).…”

mentioning

confidence: 99%

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Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

Robins¹,

French²,

Chakera³

1976

Archives of Disease in Childhood

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Section: Discussionsupporting

confidence: 49%

mentioning

confidence: 99%

Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

Robins¹,

French²,

Chakera³

1976

Archives of Disease in Childhood

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“…Tapetoretinal degeneration (24,39,30) and chronic tubulointerstitial nephropathy (Senior Syndrome) have been reported in over 20 patients. Some of those, like our case, presented hepatomegaly, progressive psychomotor deterioration, seizures, deafness, obesity, diabetes mellitus, and ichthyosis.…”

Section: Discussionmentioning

confidence: 99%

Neutral Lipid Storage with Acid Lipase Deficiency: a New Variant of Wolman's Disease with Features of the Senior Syndrome

1982

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(37), triolein, tripalmitin, cholesteryl oleate, phosphatidylserine and phosphatidylethanolamine (38) were used to prepare lipase substrates.Thin layer chromatography of neutral lipids was conducted by sequential runs in diethylether:benzene:ethanol:acetic acid (80: 100:4:0.4) and hexane:diethyl ether (94:6) on 250 f.t Silica Gel G (8). Lipids were visualized by exposure to iodine vapor or two-dimensional scanning (39). Lipid areas were scraped and counted in Aquasol (37). Lipid extracts (250 f.tg) from normal human serum were used as standards for lipid identification. Enzyme extracts were prepared by extracting tissues with 9 volumes of water in a Potter-Elvehjem fitted with a Teflon pestle.Control livers and brains and cirrhotic livers from alcoholics were obtained from the autopsy room and kept frozen at -20°C from 3 wk to 14 years. Tissues from patients with Wolman's disease included four autopsy specimens and three open liver biopsies. Tissues from the present case were obtained at autopsy. Parental consent was given for all tests and biopsies.Triacylglycerol lipase was determined by a modification of Kaplan's procedure (15). The labeled substrate was diluted with unlabeled lipid to provide a specific activity ranging from 200-30,000 cpm/nmole. The lipids (300-500 nmole) were mixed with 20-160 mg Triton X-100 and 800 nmole phosphatidylserine in 1 ml hexane, dried under nitrogen at 40°C and emulsified by adding water dropwise in a Potter-Elvehjem held at 50°C up to a volume of I m!. Fresh substrate was prepared for each set of determinations. The reaction mixture included 15-130 nmole substrate, 12.5 nmole citrate-phosphate buffer (pH 4.0) or 5 nmole acetate buffer (pH 4.25), and 15-400 p.g of extract protein in a final volume of 75-100 p.!. The reaction was stopped and the liberated fatty acids extracted according to Kaplan (15). Incubations were carried in triplicate for 0, 30, and 60 min. Reactions were generally linear for 2 h. Free fatty acid recovery varied from 34-50% when labeled oleate was substituted for labeled triacylglycerol in the reaction mixture. Pathologic specim'ens were always analyzed simultaneously with controls, and fatty acid recovery was monitored for each series. Alternatively, incubations were stopped by adding 3 ml chloroform: methanol (2: 1) and analyzing neutral lipids by thin layer chromatography. Under these conditions label recovery was generally about 80% although it ranged from 75-105%. When labeled oleate was mixed with serum lipids, 60% was recovered with the free fatty acids, 15% each with monoacylglycerol and diacylglycerol, and 5% each with triacylglycerol and origin, suggesting that adsorption onto other lipids was responsible for the low and often erratic recoveries. Thin layer chromatographic analysis also allowed to follow the breakdown of the labeled triglycerides. After 10 min incubation, labeled diacyl and monoacylglycerols and free fatty acids were close to the theoretical 2/1. Monoacylglycerol was a minor fraction, generally less than 2% of labeled substrate, ...

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“…[1][2][3][4][5][6] Juvenile nephronophthisis is a disorder characterized by progressive cyst formation at the corticomedullary junction of both kidneys, resulting in end-stage renal failure in children, and is usually inherited in an autosomal recessive pattern. The incidence of nephronophthisis has been estimated to be 1 case per 50,000 births.…”

mentioning

confidence: 99%

Senior–loken Syndrome Complicated With Severe Coats Disease–like Exudative Retinopathy

Sato

Mimura

Sugiyama

et al. 2007

RETINAL Cases &Amp; Brief Reports

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Familial Renal-Retinal Dystrophy

Cited by 22 publications

References 26 publications

Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

Neutral Lipid Storage with Acid Lipase Deficiency: a New Variant of Wolman's Disease with Features of the Senior Syndrome

Senior–loken Syndrome Complicated With Severe Coats Disease–like Exudative Retinopathy

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