SENIOR LOKEN SYNDROME

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NAJAFI FARZANEH

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Journal Paper

Paper Information

Journal: Journal of Shahid Sadoughi University of Medical Sciences Year:2011 | Volume:18 | Issue:6 (75) Page(s): 570-577

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Information Journal Paper

Title

SENIOR LOKEN SYNDROME

Author(s)

NAJAFI FARZANEH | Issue Writer Certificate

Keywords

SENIOR LOKEN SYNDROME; MEDULLARY CYSTIC KIDNEY DISEASE; KINDNEY FALIUREQ3

CHRONICQ3

Abstract

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- Loken syndrome) liver fibrosis and skeletal disorders. Recently, on the basis of genetics and type of the protein product of these mutations, NPHP is divided to 6 types. The presented case is a 17 year old boy with end stage renal disease that he has been managed with hemodialysis. As the patient has polyuria and disturbance in vision from childhood and on physical examination he had retinitis pigmentosa and horizontal nystagmus with a history of CHRONIC kidney disease in his 12 years old sister, and familial marriage between his parents, we suggest NPHP4 for the patient.

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APA: Copy

NAJAFI, FARZANEH. (2011). SENIOR LOKEN SYNDROME. JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES, 18(6 (75)), 570-577. SID. https://sid.ir/paper/36012/en

Vancouver: Copy

NAJAFI FARZANEH. SENIOR LOKEN SYNDROME. JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2011;18(6 (75)):570-577. Available from: https://sid.ir/paper/36012/en

IEEE: Copy

FARZANEH NAJAFI, “SENIOR LOKEN SYNDROME,” JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES, vol. 18, no. 6 (75), pp. 570–577, 2011, [Online]. Available: https://sid.ir/paper/36012/en

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