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Minor morphological aberrations in children with isolated urinary tract malformations
Abstract:
The prevalence of 54 minor morphological aberrations (MMAs) (mild malformations, dysplasias, deformities and phenogenetic variants) was determined in 138 children with isolated malformations of the urinary tract and in 32 patients with multiple major birth defects including renal malformations. Children with infectious diseases matched to each patient by sex, age and ethnic origin served as controls. The overall prevalence of MMAs--expressed as MMA/subject ratio--proved to be significantly higher in patients with multiple malformations (2.50) than in those with isolated renal abnormalities (0.80) and in controls (0.76). The difference between the latter two groups was not significant. Apart from characteristic patterns of well-defined syndromes, the only specific association found was the higher prevalence of supernumerary nipples in patients with isolated (and hidden) urinary tract abnormalities of various types (9.4% versus 1.8% in controls; P less than 0.005).
Insights
Minor morphological aberrations (MMAs) were more common in children with multiple birth defects than those with isolated urinary tract issues. Supernumerary nipples specifically linked to urinary tract abnormalities.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Nephrology
Background:
- Minor morphological aberrations (MMAs) are subtle physical variations.
- Understanding MMA prevalence aids in diagnosing complex genetic and developmental conditions.
Purpose of the Study:
- To determine the prevalence of 54 MMAs in children with isolated urinary tract malformations and multiple major birth defects.
- To compare MMA rates between patient groups and healthy controls.
Main Methods:
- A case-control study involving 138 children with isolated urinary tract malformations, 32 with multiple major birth defects, and matched controls.
- Systematic assessment for 54 predefined MMAs.
- Statistical analysis of MMA prevalence ratios.
Main Results:
- The MMA/subject ratio was significantly higher in patients with multiple malformations (2.50) compared to isolated renal abnormalities (0.80) and controls (0.76).
- No significant difference in MMA prevalence was observed between isolated renal abnormality patients and controls.
- Supernumerary nipples showed a significantly higher prevalence (9.4%) in patients with isolated urinary tract abnormalities versus controls (1.8%).
Conclusions:
- Multiple major birth defects are associated with a substantially higher burden of minor morphological aberrations.
- Isolated urinary tract abnormalities, while not showing increased overall MMAs, are specifically associated with a higher prevalence of supernumerary nipples.
- MMAs can serve as potential indicators for underlying genetic or developmental issues, particularly in conjunction with major organ system malformations.