Senior-Loken Syndrome: A Rare Case Report of A Novel NPHP4 Gene Mutation in A Child From Bangladesh Senior-Loken Syndrome
Journal of Pediatric Nephrology,
Vol. 12 No. 1 (2024),
10 April 2025
https://doi.org/10.22037/jpn.v12i1.46949
Abstract
Background and Aim: Senior Loken syndrome describes patients with nephronophthisis
along with retinal dystrophy. The first signs of renal involvement include polyuria and
polydipsia, which occur due to impaired urinary concentration capabilities. Nephronophthisis
progresses to end-stage renal disease by the age of 20. Retinal abnormalities can range from
severe infantile retinal dystrophy to the more typical form of retinitis pigmentosa. Other
associated features of this syndrome include skeletal and dermatological abnormalities, as
well as cerebellar issues.
Case Presentation: Here, we reported a case of Senior‒Loken syndrome with polyuria,
polydipsia, and nocturnal enuresis followed by the features of advanced renal disease, such as
growth retardation and moderate anemia. He was also myopic and demonstrated tessellated
fundus during the fundoscopic examination.
Conclusion: To date, there are no case reports published in the Bangladeshi medical literature
regarding this rare autosomal recessive disorder among pediatric patients. Therefore, this
case report aims to increase awareness among clinicians to detect these patients early, as the
management implemented may prevent or delay the need for renal replacement therapy and
preserve eyesight
- Senior-Loken syndrome
- nephronophthisis
- chronic kidney disease
- retinitis pigmentosa
How to Cite
References
Makia JM, Fahd AM. Senior-Loken syndrome: A novel
NPHP5 gene mutation in a family from Kuwait. Egypt J Med
Hum Genet. 2014; 15:203-7. [Link]
Senior B, Friedmann AI, Braudo JL. Juvenile familial nephropathy
with tapetoretinal degeneration. A new oculorenal
dystrophy. Am J Ophthalmol. 1961; 52:625-33.
[DOI:10.1016/0002-9394(61)90147-7] [PMID]
Loken AC, Hanssen O, Halvorsen S, Jolster NJ. Hereditary
renal dysplasia and blindness. Acta Paediatr (Stockh). 1961;
:177-84. [DOI:10.1111/j.1651-2227.1961.tb08037.x] [PMID]
Giridhar S, Padmaraj R, Senguttuvan P. Twins with senior-
Loken syndrome. Indian J Pediatr. 2006; 73(11):1041-3.
[DOI:10.1007/BF02758316] [PMID]
Aggarwal HK, Jain D, Yadav S, Kaverappa V, Gupta A.
Senior-Loken syndrome with rare manifestations: a case
report. Eurasian J Med. 2013; 45(2):128-31. [DOI:10.5152/
eajm.2013.25] [PMID]
Hildebrandt F, Zhou W. Nephronophthisis associated
ciliopathies. J Am Soc Nephrol. 2007; 18(6):1855-71.
[DOI:10.1681/ASN.2006121344] [PMID]
Turagam M, Velagapudi P, Holley J. Senior-Loken and other
renal-retinal syndromes: A case report and review. Nephro-
Urol Mon. 2009; 1(2):143-52. [Link]
Hildebrandt F. Nephronophthisis. In: Barratt TM, Avner
ED, Harmon WE, editors. Pediatric Nephrology. Philadelphia,
PA: Lippincott Williams & Wilkins; 2009. [Link]
Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri
Y, et al. Hypomorphic mutations in meckelin (MKS3/
TMEM67) cause nephronophthisis with liver fibrosis
(NPHP11). J Med Genet. 2009; 46(10):663-70. [DOI:10.1136/
jmg.2009.066613] [PMID]
Salomon R, Saunier S, Niaudet P. Nephronophthisis. Pediatr
Nephrol. 2009; 24(12):2333-44. [DOI:10.1007/s00467-008-
-z] [PMID]
McGregor AR, Bailey RR. Nephronophthisis cystic renal
medullary complex: Diagnosis by computerized tomography.
Nephron. 1989; 53(1):70-2. [DOI:10.1159/000185705] [PMID]
Garel LA, Habib R, Pariente D, Broyer M, Sauvegrain
J. Juvenile nephronophthisis: Sonographic appearance in
children with severe uremia. Radiology. 1984; 151(1):93-5.
[DOI:10.1148/radiology.151.1.6701346] [PMID]
Anguillera A, Rivera M, Gallego N, Nogulira Y, Ortuno
J. Sonographic appearance of the juvenile nephronophthisis
cystic renal medulla complex. Nephrol Dial Transplant. 1997;
(3):625-6. [DOI:10.1093/ndt/12.3.625] [PMID]
Blowey DL, Querfeld U, Geary D, Warady BA, Alon U. Ultrasound
finding in juvenile nephronophthisis. Pediatr Nephrol.
; 10(1):22-4. [DOI:10.1007/BF00863431] [PMID]
Waldherr R, Lennert T, Weber HP, Fodisch HJ, Scharer K.
The nephronophthisis complex: A clinicopathologic study
in children. Virchows Arch A Pathol Anat Histol. 1982;
(3):235-54. [DOI:10.1007/BF00430668] [PMID]
Fillastre JP, Guenel J, Riberi P, Marx P, Whitworth JA,
Kunh JM. Senior- Loken syndrome (nephronophthisis and
tapeto-retinaI degeneration): A study of 8 cases from 5 families.
Clin Nephrol. 1976; 5(1):14-9. [PMID]
Gattone VH 2nd, Wang X, Harris PC, Torres VE. Inhibition
of renal cystic disease development and progression by a
vasopressin V2 receptor antagonist. Nat Med. 2003; 9:1323-6.
[DOI:10.1038/nm935] [PMID]
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