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Co-occurrence of Peutz-Jeghers syndrome and unilateral multicystic dysplastic kidney: a case report
Yaqing Liu1, Sunhe Hu2, Yihan Gan3
1Department of Pediatrics, First Affiliated Hospital, Gannan Medical University, No. 128, Jinling West Road, Zhanggong District, Ganzhou, 341000, JiangXi, China. liuyaqing@gmu.edu.cn.
Insights
This study explores the co-occurrence of Peutz-Jeghers syndrome (PJS) and multicystic dysplastic kidney (MCDK) disease. Findings suggest a novel role for the STK11 gene in kidney development, beyond tumor predisposition.
Area of Science:
- Genetics
- Developmental Biology
- Nephrology
Background:
- Peutz-Jeghers syndrome (PJS) is a genetic disorder characterized by gastrointestinal polyps and increased cancer risk.
- Multicystic dysplastic kidney (MCDK) is a congenital kidney abnormality.
- The co-occurrence of PJS and MCDK is rare and not well-understood.
Purpose of the Study:
- To investigate the co-occurrence of PJS and unilateral MCDK in a patient.
- To analyze the clinical and genetic factors associated with both conditions.
- To explore the potential role of the STK11 gene in renal embryogenesis.
Main Methods:
- Clinical evaluation of a patient with PJS features (pigmentation, polyposis, intussusception).
- Genetic analysis to identify mutations in the STK11 gene.
- Assessment for co-existing MCDK.
Main Results:
- The patient presented with classic PJS symptoms and unilateral MCDK.
- A pathogenic frameshift mutation (c.843del) in the STK11 gene was identified.
- This mutation alters the STK11 protein sequence, leading to premature termination.
Conclusions:
- The STK11 gene may play a role in renal embryogenesis, expanding its known functions beyond tumor suppression.
- Three mechanistic hypotheses are proposed for the link between STK11 and congenital renal anomalies.
- Systematic renal evaluation in PJS patients and further research into metabolism-targeted therapies are recommended.
Background:
This case study aimed to evaluate the co-occurrence of Peutz-Jeghers syndrome (PJS) and unilateral multicystic dysplastic kidney (MCDK) disease through clinical and genetic analysis of a patient with both conditions.
Case Presentation:
A 13-year-and-7-month-old female patient presented with typical features of PJS, including pigmented polyposis of the gastrointestinal tract, dark pigmented spots on the skin, and a history of intestinal intussusception. Genetic testing revealed a pathogenic mutation in the serine/threonine protein kinase 11 (STK11) gene c.843del frameshift variant (p.L282Sfs*5), characterized by guanine deletion at position 843 resulting in leucine-to-serine substitution at residue 282, complete alteration of downstream amino acid sequence, and premature translation termination. In addition, she also presented with MCDK.
Conclusion:
This case reveals a potential novel role of STK11 in renal embryogenesis, expanding its phenotypic spectrum and challenging the conventional paradigm that STK11 mutations solely confer tumor predisposition. Through comprehensive literature review, we propose three mechanistic hypotheses - "metabolo-developmental coupling disruption", "ciliopathy-like pathogenesis", and "epigenetic modulation of developmental plasticity" - providing new molecular insights into congenital renal anomalies. These findings warrant systematic renal evaluation in PJS patients and exploration of metabolism-targeted therapeutic strategies.
Clinical Trial Number:
Not applicable.
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