Literature DB >> 23205360

The Senior-Loken syndrome: Two cases from the State of Qatar.

Muftah Othman1, Awad Rashed, Adel Bakr.   

Abstract

We are describing two sisters with the rare Senior-Loken syndrome, which is a combination of familial juvenile nephronophthisis and retinal dystrophy. The earliest presenting features include an impaired urinary concentrating ability, leading to polyuria and polydipsia and these are associated with visual impairment. The two patients had blindness shortly after their births. They presented to us with evidence of chronic kidney disease (CKD) in their teens, that required the initiation of the renal replacement therapy. We are reporting these two cases, as this was the first occurrence of this condition in the State of Qatar.

Entities:  

Keywords:  Juvenile nephronophthisis (NPHP); Retinopathy; Senior-Loken syndrome

Year:  2012        PMID: 23205360      PMCID: PMC3471495          DOI: 10.7860/JCDR/2012/4131.2372

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  16 in total

1.  Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.

Authors:  Guillaume Bollée; Fadi Fakhouri; Alexandre Karras; Laure-Hélène Noël; Rémi Salomon; Aude Servais; Philippe Lesavre; Vincent Morinière; Corinne Antignac; Aurélie Hummel
Journal:  Nephrol Dial Transplant       Date:  2006-06-17       Impact factor: 5.992

2.  Nephronophthisis.

Authors:  Roslyn J Simms; Lorraine Eley; John A Sayer
Journal:  Eur J Hum Genet       Date:  2008-12-10       Impact factor: 4.246

Review 3.  Nephronophthisis-medullary cystic disease: clinical and genetic aspects.

Authors:  R Gusmano; G M Ghiggeri; G Caridi
Journal:  J Nephrol       Date:  1998 Sep-Oct       Impact factor: 3.902

Review 4.  Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

Authors:  D Satran; M E Pierpont; W B Dobyns
Journal:  Am J Med Genet       Date:  1999-10-29

5.  Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.

Authors:  F Hildebrandt; B Strahm; H G Nothwang; N Gretz; B Schnieders; I Singh-Sawhney; R Kutt; M Vollmer; M Brandis
Journal:  Kidney Int       Date:  1997-01       Impact factor: 10.612

Review 6.  Nephronophthisis.

Authors:  Sophie Saunier; Rémi Salomon; Corinne Antignac
Journal:  Curr Opin Genet Dev       Date:  2005-06       Impact factor: 5.578

7.  Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families.

Authors:  J P Fillastre; J Guenel; P Riberi; P Marx; J A Whitworth; J M Kunh
Journal:  Clin Nephrol       Date:  1976-01       Impact factor: 0.975

Review 8.  Nephronophthisis-associated ciliopathies.

Authors:  Friedhelm Hildebrandt; Weibin Zhou
Journal:  J Am Soc Nephrol       Date:  2007-05-18       Impact factor: 10.121

9.  [Two cases of Senior-Loken syndrome].

Authors:  Tokuhide Oyama; Tomoaki Usui; Hiruma Hasebe; Atsushi Miki; Shigeaki Matsumoto; Kieko Suda; Nobuko Saito; Kazuyuki Imai; Mineo Takagi; Toyohisa Yoshizawa; Haruki Abe
Journal:  Nippon Ganka Gakkai Zasshi       Date:  2004-01

Review 10.  Nephronophthisis.

Authors:  Rémi Salomon; Sophie Saunier; Patrick Niaudet
Journal:  Pediatr Nephrol       Date:  2008-07-08       Impact factor: 3.714

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