Senior-Loken Syndrome-A Case Report

Tsung-Yu Tsai ； Mei-Chyn Chao ； Shao-Yen Wu ； Mei-Ling Chen ； Jien-Wen Chien

《The Changhua Journal of Medicine》 18卷4期 (2020/12) Pp. 139-144

https://doi.org/10.6501/CJM.202012_18(4).0005

摘要

Senior-Loken syndrome is a rare autosomal recessive genetic disorder characterized by nephronophthisis and retinal dystrophy. Only a few families with this syndrome have been recorded in medical articles. The case reported herein is of a 6.9-year-old boy with loss of consciousness after a seizure, with preceding polydipsia, a poor oral intake, paleness, and persistent fatigue for 1 month. The patient had a history of early-onset retinal degeneration. Serial workup revealed end-stage renal disease (creatinine 11 mg/dL, hypocalcemia 3.2 mg/dL, hyperphosphatemia 10.3 mg/dL, and hypomagnesemia 1.4 mg/dL). Ultrasonography showed both kidneys to be of normal size with increased echogenicity. A kidney biopsy revealed chronic tubulointerstitial nephritis. Whole-exome sequencing indicated a compound homozygous mutation in the NPHP5 (IQCB1) gene on chromosome 3q13, which was compatible with Senior-Loken syndrome.

關鍵字

Leber congenital amaurosis ； nephronophthisis ； retinitis pigmentosa ； Senior-Loken syndrome