Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.

Autor: Ding Y; Department of Nephrology (Key Laboratory of Management of Kidney Disease in Zhejiang Province), Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Tiyuchang Road 453, Hangzhou, 310007, People's Republic of China., Wu Z; Department of Nephrology (Key Laboratory of Management of Kidney Disease in Zhejiang Province), Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Tiyuchang Road 453, Hangzhou, 310007, People's Republic of China., Tang X; Department of Nephrology (Key Laboratory of Management of Kidney Disease in Zhejiang Province), Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Tiyuchang Road 453, Hangzhou, 310007, People's Republic of China., Li X; Department of Nephrology (Key Laboratory of Management of Kidney Disease in Zhejiang Province), Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Tiyuchang Road 453, Hangzhou, 310007, People's Republic of China. lixianfa025@163.com.
Jazyk: angličtina
Zdroj: BMC nephrology [BMC Nephrol] 2024 Nov 28; Vol. 25 (1), pp. 430. Date of Electronic Publication: 2024 Nov 28.
DOI: 10.1186/s12882-024-03891-6
Abstrakt: Background: Renal disease is associated with Charcot-Marie-Tooth disease (CMT), a common inherited neurological disorder. Three forms of CMT have been identified: CMT1 of the demyelinating type, CMT2 of the axonal defect type, and intermediate type (Int-CMT). INF2 is an important target for variants that cause the complex symptoms of focal segmental glomerulosclerosis (FSGS) and CMT.
Case Presentation: We report the case of a 13-year-old female Chinese patient (born in 2011) with a rare co-occurrence of CMT1 and glomerulosclerosis (GS) (CMT1-GS). The patient presented with slowly progressive gait disorder with unsteadiness during walking, pes cavus, and kyphoscoliosis since the age of 1 year. Electrophysiological studies and brain magnetic resonance imaging revealed demyelinating features consistent with CMT1. At 12 years of age, she was hospitalised for hypertension and dizziness; her serum albumin was 27.9 g/L, serum creatinine was 87 μmol/L, estimated glomerular filtration rate was 88.6 mL/min, and 24-h urine protein was 4.95 g. A renal biopsy showed glomerulosclerosis. Renal function deteriorated further during the follow-up period, and she received a kidney transplant at the age of 13. Whole-exome sequencing identified a de novo heterozygous c.326T > G (p.Met109Arg) variant in exon 2 of INF2. The variant was classified as "pathogenic" according to the American College of Medical Genetics and Genomics criteria.
Conclusions: We describe a rare clinical phenotype of CMT1-GS associated with a de novo variant of INF2. Our findings expand the phenotypic and genotypic spectrums of INF2-associated disorders.
Competing Interests: Declarations. Ethics approval and consent to participate: This study was approved by Ethics Committee of the Hangzhou hospital of traditional Chinese medicine (institutional review board approval number: 2020KY055). Written informed consents were obtained from the patient’s parents. Consent for publication: Written informed consent was obtained from the patient’s parents for publication of this case report and accompanying images. Competing interests: The authors declare no competing interests.
(© 2024. The Author(s).)
Databáze: MEDLINE
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