Clinical characteristics and renal phenotype in children with neurofibromatosis type 1:a single-center retro-spective analysis
Objective To retrospectively analyze the clinical characteristics and renal involvement in children with neurofibromatosis type 1(NF1),in order to provide reference for the clinical assessment and management of these patients.Methods A case series report.Basic information,admission conditions,clinical manifestations,laboratory and renal imaging findings,as well as follow-up data of children diagnosed with NF1 at Wuhan Children's Hospital of Tongji Medical College,Huazhong University of Science and Technology from January 2019 to December 2023 were retrospectively collected and analyzed.Descriptive statistics were used to summarize the clinical features of renal phenotypes associated with NF1 in this cohort.Results A total of 102 children with NF1 were included in the study,including 64 males and 38 females,with a male-to-female ratio of approximately 1.7∶1.0,and the median age was 5.6 years.The majority of initial consultations were in the departments of neurology,orthopedics,and general surgery,with 3 cases in the nephrology department.Renal involvement was observed in 8 children(7.8％),including 4 cases with abnormal urine tests(2 cases of proteinuria and 2 cases of microscopic hematuria)and 4 cases with hydronephrosis.All children had normal serum creatinine levels.Blood pressure monitoring was performed in 51 children,including 5 cases(9.8％)with prehypertension and 13 cases(25.5％)with hypertension.Conclusions NF1 is a multisystem disorder,and children with NF1 are prone to develop glomerular diseases,urinary tract abnormalities and renal vascular lesions.Urological manifestations are often subtle,making them easily overlooked in clinical practice.Therefore,it is recommended to regularly conduct blood pressure,renal function,urine routine,and urinary imaging examinations for NF1 children in order to detect and manage them early and improve their long-term prognosis.
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