Senior- Loken Syndrome – A Ciliopathy
نویسندگان
چکیده
منابع مشابه
Le syndrome de Senior Loken
Le syndrome de Sénior Loken est une ciliopathie très rare à transmission autosomique récessive caractérisée par l'association d'une néphropathie tubulo-interstitielle chronique, la néphronophtise, avec une dystrophie rétinienne. M âgé de 7 ans, issu d'un mariage consanguin du premier degré était hospitalisé pour prise en charge d'une insuffisance rénale chronique. Sa sœur est en insuffisance ré...
متن کاملA Japanese child with Senior-Loken syndrome.
BACKGROUND Senior-Loken syndrome is a rare disease that combines familial juvenile nephronophthisis with retinitis pigmentosa. We describe the clinical features of a Japanese patient with Senior-Loken syndrome emphasizing the importance of the ophthalmic findings in determining a correct diagnosis. CASE A 6-year-old Japanese girl had anemia, mental retardation, and poor vision. OBSERVATIONS...
متن کاملSenior-loken syndrome with rare manifestations: a case report.
Senior-Loken syndrome refers to a disorder in which there is a combination of nephronophthisis and retinal dystrophy. The earliest presenting signs of the renal component are polyuria and polydipsia secondary to defective urinary concentrating ability. Nephronophthisis progresses to end-stage renal disease during the second decade. The retinal lesions are variable, ranging from severe infantile...
متن کاملHereditary renal and retinal dysplasia--the Senior-Loken syndrome.
The association of nephronophthisis (medullary cystic disease of the kidney) and tapeto-retinal degeneration was first described by Senior1 and by Loken2 in 1961. Tapeto-retinal degeneration covers several hereditary disorders character-ised by degeneration of the choroid and retina leading to blindness. We present here the case of a boy known to have Leber's amaurosis, a severe form of retinal...
متن کاملیک مورد سندرم Senior Loken
The etiology of ESRD under the age of 20 almost is the inherited kidney disease or congenital disorders of urinary tract. NPHP/ medullary cystic disease includes a group of tubulo- genetic kidney disorders. NPHP is the cause of 15-20% ESRD in children and adolescents. The extra renal manifestations include: oculomotor Apraxia(Cogan syndrome), mental retardation, retinitis pigmentosa, (Senior-...
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ژورنال
عنوان ژورنال: JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
سال: 2014
ISSN: 2249-782X
DOI: 10.7860/jcdr/2014/9688.5120