Yamabe Fumiko, Shindo Takahiro, Haneda Kentaro, Namai Yoshiyuki, Harita Yutaka
Department of Pediatrics Ohta Nishinouchi Hospital Fukushima Japan.
Department of Pediatrics The University of Tokyo Hospital Tokyo Japan.
Clin Case Rep. 2025 Sep 4;13(9):e70851. doi: 10.1002/ccr3.70851. eCollection 2025 Sep.
Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD). Although the link between trisomy 13 and PKD is recognized, the timing and progression of renal cyst development remain unclear. We report a male neonate with trisomy 13 in whom we performed serial renal ultrasounds, enabling real-time monitoring of PKD progression. Prenatal and immediate postnatal imaging revealed no renal abnormalities. However, progressive microcystic changes became evident by day 86, peaked around day 169, and subsequently regressed by day 434. Despite transient kidney enlargement, renal function remained stable at chronic kidney disease stage 2. This case demonstrates that regular and serial postnatal renal ultrasound is necessary to detect and manage PKD progression in trisomy 13. We recommend structured renal follow-up to enable early intervention and improve clinical care in these patients.
13三体综合征是一种常与先天性异常相关的染色体疾病，包括多囊肾病（PKD）。尽管13三体综合征与PKD之间的联系已得到认可，但肾囊肿形成的时间和进展仍不清楚。我们报告了一名患有13三体综合征的男性新生儿，我们对其进行了系列肾脏超声检查，从而能够实时监测PKD的进展。产前和出生后即刻的影像学检查未发现肾脏异常。然而，进行性微囊性改变在第86天变得明显，在第169天左右达到高峰，随后在第434天消退。尽管肾脏有短暂增大，但肾功能在慢性肾脏病2期保持稳定。该病例表明，出生后定期进行系列肾脏超声检查对于检测和管理13三体综合征患者的PKD进展是必要的。我们建议进行结构化的肾脏随访，以便在这些患者中进行早期干预并改善临床护理。
