A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

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.

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Publication Details

Journal
Clinical Case Reports
Published
2025-09-01
DOI
https://doi.org/10.1002/ccr3.70851
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
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article

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

Yoshiyuki Namai, Takahiro Shindo, Kentaro Haneda, Fumito Yamabe et al.
Clinical Case Reports
Genetic and Kidney Cyst Diseases
article

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

Yoshiyuki Namai, Takahiro Shindo, Kentaro Haneda, Fumito Yamabe, Yutaka Harita
article en

Abstract

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.

Clinical Case ReportsVol. 13(9)
University of Tokyo Hospital (JP), Ohta Nishinouchi Hospital (JP)
Openalex Percentile: Top 74%
Genetic and Kidney Cyst Diseases
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A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13 — Yoshiyuki Namai, Takahiro Shindo, et al. · Clinical Case Reports (2025) | TGRS Research Map | TGRS