Analysis of clinical, imaging and pathological characteristics of children with NPHP3-associated Nephronophthisis

doi:10.13418/j.issn.1001-165x.2026.2.13

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Chinese Journal of Clinical Anatomy ›› 2026, Vol. 44 ›› Issue (2) : 206-213. DOI: 10.13418/j.issn.1001-165x.2026.2.13

Analysis of clinical, imaging and pathological characteristics of children with NPHP3-associated Nephronophthisis

Zhang Weina^1,2, Lin Hongrong², Tong Huajuan³, Yu Zihua³, Yue Zhihui⁴, Li Tian¹, Sun Liangzhong²*, Li Yanbing ¹*

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Abstract

Objective To investigate the clinical, imaging and pathological features of nephronophthisis (NPH) associated with NPHP3 gene in pediatric patients and their relationships with disease progression. Methods The clinical, imaging and pathological characteristics of 13 genetically confirmed pediatric patients from 10 families with NPHP3-associated NPH were retrospectively analyzed and the associations between these features and disease progression were examined. Results The median age at onset of the 13 patients was 1.9 years, and the median age at progression to end-stage renal disease (ESRD) was 3.3 years. The most common initial clinical manifestations were anemia (46.2%) and abnormal renal ultrasound findings (38.5%). Imaging result showed bilateral renal enlargement (69.2%) and renal cysts (61.5%). Renal cyst could emerge at the early stage of the disease and reside on corticomedullary, as well as cortex. There was no significant difference in age at progression to ESRD between the groups with normal renal size and those with enlarged kidneys at onset (P>0.05). Maximum cyst diameter was not significantly associated with progression to ESRD (P>0.05). Renal pathology uniformly demonstrated chronic tubulointerstitial nephropathy, thickness of tubular basement membrane was absent in some patient, in a few patients without cysts on imaging, renal cysts were nevertheless observed pathologically. Hepatic involvement was significantly more common in the infantile form than in the juvenile form (P<0.05), while cardiac involvement occurred only in infantile patients. Conclusions In this study, NPHP3-associated NPH predominantly presented in the infantile form, with early onset and rapid progression. Renal enlargement, absence of thickening of tubular basement membrane, early emerging of renal cysts and its distribution on the renal cortex, distinguish NPHP3-associated NPH from classic NPH. Extrarenal manifestations mainly involved the liver and heart and were predominantly observed in infantile patients. This finding offers early diagnostic clues for rapidly progressive cases and provides a basis for guiding clinical monitoring (for example, emphasizing assessment of hepatic and cardiac function) and genetic counseling.

Key words

Nephronophthisis; / / NPHP3; / / Renal cyst; / End-stage renal disease / Chronic tubulointerstitial nephropathy

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Zhang Weina, Lin Hongrong, Tong Huajuan, Yu Zihua, Yue Zhihui, Li Tian, Sun Liangzhong, Li Yanbing. Analysis of clinical, imaging and pathological characteristics of children with NPHP3-associated Nephronophthisis[J]. Chinese Journal of Clinical Anatomy. 2026, 44(2): 206-213 https://doi.org/10.13418/j.issn.1001-165x.2026.2.13

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