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Background <p>Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder and a leading cause of kidney failure. Although typically considered an adult-onset condition, a subset of patients present in utero or within the first 18 months of life (very early-onset ADPKD; VEO-ADPKD). This subgroup may experience a more severe disease course.</p> Methods <p>A systematic search of MEDLINE was conducted to identify studies reporting clinical, genetic, radiologic and kidney outcome data in children (&lt; 18 years) with VEO-ADPKD. Case series including fewer than three VEO-ADPKD patients were excluded. ADPKD diagnosis was based on 2019 international consensus radiologic criteria, including age-appropriate cystic and/or enlarged kidneys, with supportive family history and/or genetic confirmation. Children with non-VEO-ADPKD reported within the same studies were included for comparison. Outcomes of interest included inheritance patterns, genetic profile, hypertension, proteinuria, chronic kidney disease (CKD), kidney failure, and perinatal death. Descriptive analyses and Bayesian model-averaged random-effects meta-analyses were performed using JASP (version 0.9.13) with a conditional model specification. A non-informative Beta (1,1) prior was used.</p> Results <p>Nineteen studies comprising 736 ADPKD children (VEO: 335, non-VEO: 401) met inclusion criteria. Bayesian model-averaged meta-analysis (8 studies) showed higher odds in VEO-ADPKD for hypertension (OR 2.08, 95% CrI 1.00–2.70; BF₁₀ 18.2), proteinuria (OR 1.58, 1.00–2.60; BF₁₀ 4.0), CKD (OR 1.77, 1.00–2.66; BF₁₀ 7.4) and kidney failure (OR 1.99, 1.00–2.69; BF₁₀ 10.6). Evidence for maternal inheritance in VEO-ADPKD was weak (OR 1.31, 1.00–2.44; BF₁₀ 1.6). Biallelic PKD1 mutations (38/158 vs. 0/147) and perinatal death (34/320 vs. 0/401) occurred exclusively in the VEO group and are reported descriptively, as complete separation precluded pooled estimation.</p> Conclusion <p>VEO-ADPKD represents a distinct, high-risk pediatric phenotype characterized by earlier and more severe kidney involvement. These findings emphasize the importance of early diagnosis, comprehensive genetic evaluation, and close monitoring. Genetic testing is essential to identify children with biallelic mutations, representing a clinical entity more akin to mild autosomal recessive polycystic kidney disease. Standardized phenotyping and prospective pediatric studies are needed to guide early therapeutic interventions and improve long-term outcomes in this rare population.</p> Clinical trial number <p>NA.</p>

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Comparison of genetic profile and kidney outcomes between very early-onset and non-very-early-onset autosomal dominant polycystic kidney disease in children: a systematic review and meta-analysis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月4日

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  • Charalampos Kapogiannis,
  • Georgios Dimakopoulos,
  • Anastasios Kapogiannis,
  • Μatko Marlais

摘要

Background

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder and a leading cause of kidney failure. Although typically considered an adult-onset condition, a subset of patients present in utero or within the first 18 months of life (very early-onset ADPKD; VEO-ADPKD). This subgroup may experience a more severe disease course.

Methods

A systematic search of MEDLINE was conducted to identify studies reporting clinical, genetic, radiologic and kidney outcome data in children (< 18 years) with VEO-ADPKD. Case series including fewer than three VEO-ADPKD patients were excluded. ADPKD diagnosis was based on 2019 international consensus radiologic criteria, including age-appropriate cystic and/or enlarged kidneys, with supportive family history and/or genetic confirmation. Children with non-VEO-ADPKD reported within the same studies were included for comparison. Outcomes of interest included inheritance patterns, genetic profile, hypertension, proteinuria, chronic kidney disease (CKD), kidney failure, and perinatal death. Descriptive analyses and Bayesian model-averaged random-effects meta-analyses were performed using JASP (version 0.9.13) with a conditional model specification. A non-informative Beta (1,1) prior was used.

Results

Nineteen studies comprising 736 ADPKD children (VEO: 335, non-VEO: 401) met inclusion criteria. Bayesian model-averaged meta-analysis (8 studies) showed higher odds in VEO-ADPKD for hypertension (OR 2.08, 95% CrI 1.00–2.70; BF₁₀ 18.2), proteinuria (OR 1.58, 1.00–2.60; BF₁₀ 4.0), CKD (OR 1.77, 1.00–2.66; BF₁₀ 7.4) and kidney failure (OR 1.99, 1.00–2.69; BF₁₀ 10.6). Evidence for maternal inheritance in VEO-ADPKD was weak (OR 1.31, 1.00–2.44; BF₁₀ 1.6). Biallelic PKD1 mutations (38/158 vs. 0/147) and perinatal death (34/320 vs. 0/401) occurred exclusively in the VEO group and are reported descriptively, as complete separation precluded pooled estimation.

Conclusion

VEO-ADPKD represents a distinct, high-risk pediatric phenotype characterized by earlier and more severe kidney involvement. These findings emphasize the importance of early diagnosis, comprehensive genetic evaluation, and close monitoring. Genetic testing is essential to identify children with biallelic mutations, representing a clinical entity more akin to mild autosomal recessive polycystic kidney disease. Standardized phenotyping and prospective pediatric studies are needed to guide early therapeutic interventions and improve long-term outcomes in this rare population.

Clinical trial number

NA.