# Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report

**Authors:** Zuhayr Khan, Mahsum Jafri, Constantino G Lambroussis

PMC · DOI: 10.7759/cureus.102475 · Cureus · 2026-01-28

## TL;DR

A fetus with a rare kidney condition is linked to genetic and environmental factors from both parents.

## Contribution

This case report highlights the multifactorial causes of MCDK, including genetic and environmental influences.

## Key findings

- A fetus presented with unilateral MCDK associated with maternal mental health and GERD.
- Paternal occupational lead exposure and PMM2-CDG may contribute to fetal kidney dysplasia.
- The case suggests glycosylation defects and environmental toxins may affect kidney development.

## Abstract

Multicystic dysplastic kidney (MCDK) is a congenital renal anomaly identified on prenatal ultrasound. They often arise sporadically and unilaterally. Our case involves an isolated unilateral MCDK in a fetus born to a mother with generalized anxiety disorder (GAD), obsessive-compulsive disorder (OCD), and gastroesophageal reflux disease (GERD), with the father having chronic occupational lead exposure and a congenital disorder of glycosylation type 1A (PMM2-CDG). Our case highlights the multifactorial etiology of renal dysplasia and its potential role of glycosylation defects and environmental toxicity in abnormal kidney development. Contributions from genetic, environmental, and metabolic influences during nephrogenesis contribute to MCDK.

## Linked entities

- **Chemicals:** lead (PubChem CID 5352425)
- **Diseases:** multicystic dysplastic kidney (MONDO:0015988), generalized anxiety disorder (MONDO:0001942), obsessive-compulsive disorder (MONDO:0008114), gastroesophageal reflux disease (MONDO:0007186), congenital disorder of glycosylation type 1A (MONDO:0008907)

## Full-text entities

- **Genes:** PAX2 (paired box 2) [NCBI Gene 5076] {aka FSGS7, PAPRS, PAX-2}, NR3C1 (nuclear receptor subfamily 3 group C member 1) [NCBI Gene 2908] {aka GCCR, GCR, GCRST, GR, GRL}, ALG12 (ALG12 alpha-1,6-mannosyltransferase) [NCBI Gene 79087] {aka CDG1G, ECM39, PP14673, hALG12}, INS (insulin) [NCBI Gene 3630] {aka IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10}, FRG1 (FSHD region gene 1) [NCBI Gene 2483] {aka FRG1A, FSG1}, HNF1B (HNF1 homeobox B) [NCBI Gene 6928] {aka ADTKD3, FJHN, HNF-1-beta, HNF-1B, HNF1beta, HNF2}, CYP4A11 (cytochrome P450 family 4 subfamily A member 11) [NCBI Gene 1579] {aka CP4Y, CYP4A2, CYP4AII, CYPIVA11}, FRG2 (FSHD region gene 2) [NCBI Gene 448831] {aka FRG2A}, PMM2 (phosphomannomutase 2) [NCBI Gene 5373] {aka CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2}, ELN (elastin) [NCBI Gene 2006] {aka ADCL1, SVAS, WBS, WS}, PEX26 (peroxisomal biogenesis factor 26) [NCBI Gene 55670] {aka PBD7A, PBD7B, PEX26M1T, Pex26pM1T}
- **Diseases:** Fetus (MESH:D017490), Bilateral disease (MESH:D006312), CDG (MESH:C567859), fetal diseases (MESH:D005315), glycosylation defects (MESH:D018981), obesity (MESH:D009765), renal teratogen (MESH:C535542), dysplastic (MESH:D004416), loss of nephron formation (MESH:D058426), ureterovesical stenosis (MESH:D003251), autosomal recessive disorder of N (MESH:D030342), renal and extrarenal malformations (MESH:D006030), congenital anomalies of the kidney and (MESH:D007680), proteinuria (MESH:D011507), PMM2- (MESH:C535739), ureteral ectasia (MESH:D004108), tubular dysfunction (MESH:D005198), impaired renal growth (MESH:D006130), GERD (MESH:D005764), oligohydramnios (MESH:D016104), extrarenal anomalies (MESH:D000013), ureterocele (MESH:D014518), MCKD (MESH:C536137), MCDK (MESH:D021782), congenital renal anomaly (MESH:C535986), psychiatric (MESH:D001523), renal dysgenesis (MESH:C537048), diabetes (MESH:D003920), fetal macrosomia (MESH:D005320), malignancy (MESH:D009369), localized renal dysplasia (MESH:C537580), fetal distress (MESH:D005316), OCD (MESH:D009771), abnormal kidney development (MESH:D007674), cyst (MESH:D003560), polycystic kidney disease (MESH:D007690), tract (MESH:D014570), cystic dysplasia (MESH:C537755), hypertension (MESH:D006973), GAD (MESH:C000726808), congenital anomalies of the kidney and urinary tract (MESH:C566906), KID (MESH:C536168), vascular injury (MESH:D057772), toxicity (MESH:D064420), hydronephrosis (MESH:D006869), nervous and cardiovascular deformities (MESH:D002318), hypertrophy (MESH:D006984)
- **Chemicals:** cortisol (MESH:D006854), glucose (MESH:D005947), creatinine (MESH:D003404), heavy metals (MESH:D019216), calcium (MESH:D002118), lead (MESH:D007854), alcohol (MESH:D000438), mercury (MESH:D008628), chromium (MESH:D002857)
- **Species:** Nicotiana tabacum (American tobacco, species) [taxon 4097], Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

14 references — full list in the complete paper: https://tomesphere.com/paper/PMC12947592/full.md

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Source: https://tomesphere.com/paper/PMC12947592