Clinical and genetic analysis of children with nephronophthisis
10.3760/cma.j.cn101070-20241017-00671
- VernacularTitle:肾单位肾痨患儿的临床及基因分析
- Author:
Yu ZHOU
1
;
Xiaorong LIU
1
Author Information
1. 国家儿童医学中心，首都医科大学附属北京儿童医院肾脏内科，北京 100045
- Publication Type:Journal Article
- Keywords:
Child;
End-stage renal disease;
Next generation sequencing;
Nephronophthisis
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(7):515-520
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize and analyze the clinical and genetic characteristics of children with nephronophthisis (NPHP) so as to improve clinicians′ understanding of this disease and provide reference for its early diagnosis.Methods:Retrospective case series study.The clinical and genetic data of 15 children with NPHP diagnosed by gene detection in the Department of Nephrology, Beijing Children′s Hospital, Capital Medical University from January 2016 to June 2024 were retrospectively analyzed.Non-normal distribution measurement data were expressed as median (range) and analyzed by rank sum test.Results:There were 10 boys and 5 girls in the 15 patients included, with a median age of onset of 6.85 years (1.16-14.00 years).The initial clinical manifestations were lack of specificity, and most patients presented non-specific symptoms such as fatigue, growth retardation, polydipsia and polyuria initially.At the first visit, 14 children had renal function damage, and 5 of them had end-stage renal disease (ESRD).Another 4 children progressed to ESRD during the follow-up, and 2 children died during the follow-up.The median age of ESRD or death was 12.25 years (1.87-15.00 years).Renal ultrasound changes were observed in all 15 children, including parenchymal echo enhancement in 14 cases, unclear medullary boundary in 10 cases, renal cysts in 7 cases, and renal volume reduction in 2 cases.Renal histopathological examination was performed in 2 cases, and their results were consistent with the pathological manifestations of early and late NPHP, respectively.NPHP can be complicated with renal, intracranial, cardiac and other extrarenal manifestations. NPHP1, NPHP4, NPHP2, NPHP3, NPHP11, NPHP13 and NPHP18 mutations were detected in 5, 4, 2, 1, 1, 1, and 1 patient, respectively.Previously unreported mutation sites were revealed, including c. 594-3C>G, c.1415T>C, c.37553769delTTCGGGGGACACAGA, c.4067A>C, c.1196A>G, c.4140+ 3G>C, c.1196A>G, c.2101-20A>C, c.643C>T and c. 2087T>C. Conclusions:The onset of NPHP is insidious and it often presents with non-specific manifestations.Laboratory and imaging examinations lack specificity.Generally, renal insufficiency is an early symptom of NPHP, and it progresses rapidly, resulting in poor prognosis.Most patients lose the opportunity for kidney biopsy.NPHP should be considered in children with early onset and unexplained renal insufficiency, and genetic testing is helpful for early diagnosis.
