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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2010  |  Volume : 21  |  Issue : 4  |  Page : 735-737
Senior-Loken syndrome in an Iranian family


Urology Nephrology Research Center, Department of Internal Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

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Date of Web Publication26-Jun-2010
 

   Abstract 

Senior-Loken syndrome is a rare entity that combines familial juvenile nephro­nophthisis with retinal dystrophy. Herein, we report Senior-Loken syndrome in six members of an Iranian family with progressive blindness and renal failure since childhood. Although, this syn­drome was reported from other parts of the world, report of six members of one family with this syndrome is rare. To the best of our knowledge, this is the first report from Iran.

How to cite this article:
Roozbeh J, Sharifian M, Hosseini H, Sagheb MM, Behzadi S, Raeisjalali GA, Iraniparast A, Afshariani R, Tohidi M, Sharifian M. Senior-Loken syndrome in an Iranian family. Saudi J Kidney Dis Transpl 2010;21:735-7

How to cite this URL:
Roozbeh J, Sharifian M, Hosseini H, Sagheb MM, Behzadi S, Raeisjalali GA, Iraniparast A, Afshariani R, Tohidi M, Sharifian M. Senior-Loken syndrome in an Iranian family. Saudi J Kidney Dis Transpl [serial online] 2010 [cited 2019 Sep 21];21:735-7. Available from: http://www.sjkdt.org/text.asp?2010/21/4/735/64663

   Introduction Top


Senior-Loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. [1]

Loken et al [2] first described this combination in a brother and sister in 1961. Senior et al [3] and Fairley et al [4] also reported the same com­bination in other families.

The clinical feature of this syndrome includes renal, ocular and other systemic involvements.

Herein we report this syndrome in six mem­bers of an Iranian family. To the best of our knowledge this is the first report form Iran.


   Case Presentation Top


The first patient from our series is a 26 year old man who referred to our center due to renal failure and blindness. He was relatively well till teenage when his vision decreased gra­dually, especially impaired at night and he was almost blind by the age of 17. On ophthalmo­logic evaluation, retinitis pigmentosa and cata­ract were detected.

The patient had a long term history of poly­uria and polydipsia during his childhood period. At the age of 18, he developed lower extre­mities edema and laboratory investigations re­vealed advance kidney disease. The abdominal ultrasonography showed bilateral normal size kidney with hyperechogenic cortex and mild hydronephrosis and also small simple cyst mea­suring 28 mm in the upper lobe of the right kidney. Other abdominal organs were normal. He underwent kidney transplantation but un­fortunately the transplanted kidney was rejec­ted and he was transplanted again, now his general condition is good. Biopsy of the kidney at the time of renal transplantation revealed medullary cystic changes.

Cataract surgery was also performed too with­ out any significant improvement in his vision.

Strong family history of renal failure and blind­ness was noted. His elder sister and younger brother had a similar problem.

The elder sister was mentally retarded; and had a history of decreased vision as a teenager and was completely blind by the age of 20. She was relatively well till age 26 when pre­sented with severe edema but she was ignored and unfortunately died some days later due to renal failure.

The younger brother had the same pattern too. He was blind till the age of 17 and pre­sented with renal failure at the age of 19 and was transplanted twice too. Now his condition is good. The pattern of medullary cystic renal disease was detected in his kidney biopsy. Ultrasonography of the abdomen showed bila­teral mild hydronephrosis, and also a single cyst in the midpole of the right kidney. Other abdominal organs were normal.

Both siblings had retinitis pigmentosa and cataract. The other sibling of the family was a 33 year old lady with no medical problem, neither herself nor her two children.

The parents were relatives and this pattern was seen in the three other members of their family too.

Two of them died due to complications of renal failure and both of them were transplan­ted twice too. The other member of the family was a 28 year old female with a history of blindness since childhood and presented with renal dysfunction and hypertension, (BP 170/ 110 mmHg, BUN 36 mg/dL, Cr 2.4 mg/dL). She was also labeled as having Senior-loken syndrome.


   Discussion Top


Senior-Loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. [1] The syndrome accounts for an estimated 16% of nephronopthisis cases when retinopathy and family history is sugges­tive of autosomal recessive inheritance. [5]

Renal tubular fibrosis, renal atrophy or dila­tation and thickening of the tubular basement membrane are the pathology of renal failure in this situation. [6] Polyuria and polydipsia due to concentrating defect are the earliest presenting signs. [7] The disease progresses to end stage renal disease, requiring renal replacement the­rapy before the age of 20, however late onset renal failure in the third decade has also been reported. [6] Ocular involvement has several forms. The retinopathy in Senior-loken syn­drome has been reported to be severe and leading to blindness in childhood. This has been described as either a childhood-onset retinitis pigmentosa [6] other associated ocular abnormalities in this syndrome include; cata­racts, Coat's disease, and keratoconus. [8],[9]

The ophthalmic findings in our patients were an important clue led to the diagnosis of Senior-Loken syndrome. A careful ophthalmic examination was helpful in correctly diagno­sing the syndrome and should be practiced in all young patients with renal failure.

Early cataract surgery may help in restoring the vision. [9]

Report of Senior-Loken syndrome with men­tal retardation is rare, [10] and one of our patient had mental retardation.

Most of the patients with Senior-loken syn­drome progress to renal failure in the second decades of the life, genetic or allelic hetero­geneity however may result in late presen­tation similar to two of our patients. [11] To the best of our knowledge this is the first report of Senior-Loken syndrome from Iran and several manifestations were observed in our cohort. Presence of this syndrome in six members of the family has never been reported before in the literature.


   Acknowledgement Top


Our special thanks to Dr. N. Shokrpour, for the linguistic editing of the manuscript.

 
   References Top

1.Giridhar S, Padmaraj R, Senguttuvan P. Twins with Senior-Loken syndrome. Indian J Pediatr 2006;73(11):1041-3.  Back to cited text no. 1      
2.Loken AC, Hanssen O, Halvorsen S, Jolster NJ. Hereditary renal dysplasia and blindness. Acta Paediatr 1961;50:177-84.  Back to cited text no. 2  [PUBMED]    
3.Senior B, Friedmann AI, Braudo JL. Juvenile familial nephropathy with tapetoretinal dege­neration: a new oculorenal dystrophy. Am J Ophthalmol 1961;52:625-33.  Back to cited text no. 3  [PUBMED]    
4.Fairley KF, Leighton PW, Kincaid-Smith P. Familial visual defects associated with poly­cystic kidney and medullary sponge kidney. BMJ 1963;1:1060-3.  Back to cited text no. 4      
5.Warady BA, Cibis G, Alon U, Blowey D, Heller­stein S. Senior-Loken Syndrome: Revisited. Pediatrics 1994;94:111-2.  Back to cited text no. 5      
6.Godel V, Iaina A, Nemet P, Lazar M. Retinal manifestations in familial juvenile nephro­nophthisis. Clin Genet 1979;16:277-81.  Back to cited text no. 6  [PUBMED]    
7.Godel V, Iaina A, Nemet P, Lazar M. Sector retinitis pigmentosa in juvenile nephronoph­ thisis. Br J Ophthalmol 1980;64:124-6.  Back to cited text no. 7  [PUBMED]  [FULLTEXT]  
8.Schuman JS, Lieberman KV, Friedman AH, Berger M, Schoeneman MJ. Senior Loken syn­drome (Familial Renal-Retinal Dystrophy) and Coat's Disease. Am J Ophthalmol 1985;100: 822-7.  Back to cited text no. 8  [PUBMED]    
9.Sarangapani SC, hang L, Gregory-Evans K, Cataract surgery in Senior-Loken syndrome is beneficial despite severe retinopathy. Eye 2002;16(6):782-5.  Back to cited text no. 9      
10.Tanaka H, Waga S, Tateyama T, Suzuki K, Yamada S, Yokoyama M. Senior-Loken syn­drome associated with mental retardation and microcephaly. Pediatr Int 2001;43(3):310-2.  Back to cited text no. 10      
11.George B , Cosyns JP, Dahan K, et al. Late onset renal failure in Senior loken syndrome. Am J Kidney Dis 2000;36:1271-5.  Back to cited text no. 11      

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Correspondence Address:
Maryam Sharifian
Shiraz University of Medical Sciences, Shiraz
Iran
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PMID: 20587883

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This article has been cited by
1 Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family
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[Pubmed]



 

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    Abstract
    Introduction
    Case Presentation
    Discussion
    Acknowledgement
    References
 

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