SSBP1 mutation-induced autosomal dominant optic atrophy with chronic renal insufficiency: a case report and literature review
10.3760/cma.j.cn101070-20220714-00863
- VernacularTitle:SSBP1基因突变致常染色体显性视神经萎缩症伴慢性肾功能不全1例并文献复习
- Author:
Yunfeng JIN
1
;
Jitong LI
;
Ping LIU
;
Yujie LIU
;
Guangbo LI
;
Ming TIAN
;
Cuihua LIU
Author Information
1. 郑州大学附属儿童医院，河南省儿童医院，郑州儿童医院肾脏风湿科，郑州市儿童肾脏病研究重点实验室，郑州 450018
- Keywords:
SSBP1 gene;
Growth retardation;
Renal insufficiency;
Optic atrophy
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(4):305-308
- CountryChina
- Language:Chinese
-
Abstract:
The data of a patient with autosomal dominant optic atrophy (ADOA) and chronic renal insufficiency caused by SSBP1 gene mutation in the Children′s Hospital Affiliated to Zhengzhou University in July 2021 was analyzed retrospectively.Literature was reviewed.The patient was a 10-year-old girl, who visited the hospital due to " growth retardation for the past 3 years and elevated serum creatinine (Scr) for the past 2 years" . On admission, the patient′s height was 130 cm (<10 th percentile of the same sex of healthy age) and her weight was 22 kg (<3 rd precentile of the same sex of healthy age). Lab examination showed that the level of blood urea nitrogen (BUN) was 16.3 mmol/L, Scr was 115.4 μmol/L, and the estimated glomerular filtration rate was 41 mL/(min·1.73 m 2). The patient was complicated with metabolic acidosis and mild anemia.Imaging findings showed small volume of both kidneys, increased background parenchymal enhancement, scattered spot-like hyperechoes and unclear boundary between the cortex and medulla.Additionally, the patient had a history of optic atrophy.Both the father and mother of the patient had no related phenotypes.The genetic test of the patient showed that c. 320G>A (p.R107Q) was a heterozygous missense mutation, which was spontaneous.A total of 5 English papers were retrieved.There were 8 kinds of SSBP1 gene mutations reported, including 7 heterozygous missense mutations [c.320G>A (p.Arg107Gln), c.119G>T (p.Gly40Val), c.331G>C (p.Glu111Gln), c.184A>G (p.Asn62Asp), c.113G>A (p.Arg38Gln), c.422G>A (p.Ser141Asn), c.79G>A (p.Glu27Lys)] and 1 homozygous mutation [c.394A>G (p.Ile132Val)]. Studies have established that almost all patients carrying SSBP1 mutations have manifestations of eye involvement, and that some patients are complicated with progressive deterioration of renal function, sensorineural deafness, growth retardation, and hypothyroidism.It suggests that SSBP1 gene mutation can cause ADOA.For patients with optic atrophy, whether they are complicated with hearing loss and growth retardation, renal morphology and renal function evaluation are recommended.Early genetic examination is helpful for diagnosis and treatment.
