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Case Reports
. 2025 Jul 17;26(1):396.
doi: 10.1186/s12882-025-04340-8.

Co-occurrence of Peutz-Jeghers syndrome and unilateral multicystic dysplastic kidney: a case report

Yaqing Liu  1 , Sunhe Hu  2 , Yihan Gan  3 , Yulan Fang  2
Affiliations
Case Reports

Co-occurrence of Peutz-Jeghers syndrome and unilateral multicystic dysplastic kidney: a case report

Yaqing Liu et al. BMC Nephrol. .

Abstract

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.

Keywords: LKB1; STK11; Case report; Multicystic dysplastic kidney; Peutz-Jeghers syndrome.

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Conflict of interest statement

Declarations. Ethical approval: This study was conducted in accordance with the Declaration of Helsinki and approved by the Ethics Committee of the First Affiliated Hospital of Gannan Medical University (LLSC No. 2025 − 204). Consent for publication: Since the patient was a minor, written informed consent was obtained from the patient’s parents for publication of clinical details and clinical images. A copy of the written consent is available for review by the Editor of this journal upon request. Generative AI statement: The author(s) declare that no Generative AI was used in the creation of this manuscript. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Dark pigmented spots on the skin at the peripheries of the lips (A) and fingers (B); Gastroscopy showed multiple gastric polyps (C)
Fig. 2
Fig. 2
Imaging findings. Ultrasound (A) and Abdominal computed tomography (B) showed intussusception; Plain abdominal X-ray showed intestinal obstruction (C); Abdominal CT showed a complex cystic-solid mass adjacent to the right psoas muscle (marked by red box) (D); Contrast-enhanced abdominal computed tomography angiography demonstrated an atrophic right kidney with multiple cysts (marked by red box) (E) and compensatory enlargement of the left kidney (F)
Fig. 3
Fig. 3
Histological image of a small intestinal hamartomatous polyp (HE×100)
Fig. 4
Fig. 4
Pedigree chart and sanger sequencing verification
Fig. 5
Fig. 5
Pathophysiological changes induced by STK11 deletion mutation
See this image and copyright information in PMC

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