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Published on: October 12, 2017
Familial congenital lower urinary tract obstruction (LUTO) suggested by screening for lower urinary tract dysfunction
Fabian Ebach1, Pauline Wagner1, Raimund Stein2
1Department of Neonatology and Pediatric Intensive Care University Hospital Bonn Bonn Germany.
Insights
Congenital lower urinary tract obstruction (LUTO) appears more heritable than previously assumed. Clinical assessment of first-degree relatives for LUTO symptoms is recommended to improve early detection and management.
Area of Science:
- Pediatric Urology
- Medical Genetics
- Congenital Malformations
Background:
- Congenital lower urinary tract obstruction (LUTO) is a spectrum of malformations, with posterior urethral valves (PUV) being the most common.
- LUTO presents with variable severity, from severe forms causing fetal complications to mild forms presenting as recurrent urinary tract infections.
- Familial occurrence suggests a significant genetic component influencing LUTO's phenotypic variability.
Purpose of the Study:
- To investigate the heritability of congenital lower urinary tract obstruction (LUTO).
- To systematically screen parents of LUTO patients for undiagnosed or mild symptoms of LUTO.
- To assess the clinical relevance of familial LUTO in genetic counseling and early diagnosis.
Main Methods:
- Systematic clinical screening of parents from LUTO-affected families.
- Exclusion of fathers over 50 to avoid phenocopies from benign prostatic hypertrophy.
- Utilized uroflowmetry, ultrasonography (residual urine, hydronephrosis), renal function tests, and International Prostate Symptom Score (IPSS).
Main Results:
- Five of 29 eligible families (17%) had fathers with pre-diagnosed infravesical obstruction.
- In the screened families, two fathers and one mother exhibited symptoms suggestive of mild LUTO.
- One family identified a prenatal diagnosis of LUTO in a male fetus, indicating potential for early familial detection.
Conclusions:
- Congenital lower urinary tract obstruction (LUTO) demonstrates higher heritability than previously recognized.
- Clinical evaluation of first-degree relatives of LUTO patients is crucial for identifying potential undiagnosed cases.
- Early assessment can aid in understanding the genetic basis and improving management strategies for LUTO.
Background:
Congenital lower urinary tract obstruction (LUTO) describes a heterogeneous group of congenital malformations. Posterior urethral valves (PUV) represent the most common entity. Familial occurrence has been described, suggestive of underlying genetic factors. LUTO can occur in various degrees of severity. In severe forms, oligohydramnios, pulmonary hypoplasia, and renal damage can occur resulting in high pre- and postnatal mortality. On the contrary, mild forms may become apparent through recurrent urinary tract infections. Such high phenotypic variability has been described even within the same family. Here, we systematically screened parents of affected children for symptoms of LUTO.
Methods:
The study population consisted of parents of LUTO patients. Fathers over 50 years of age were excluded, to avoid inclusion of male phenocopies due to early prostatic hypertrophy. Uroflowmetry, ultrasonography for residual urine and hydronephrosis, and laboratory examination of standard renal retention parameters were assessed, and a detailed patient history was taken, including the assessment of the International Prostate Symptom Score.
Results:
Twenty-nine of 42 LUTO families enrolled were found eligible for the present study. Of these, we identified five families in which the father had already been diagnosed with infravesical obstruction (17%). Of the remaining families, nine agreed to participate in our study. Of these nine families, eight families had a child affected with PUV and one family had a child with urethral stenosis. Here, we found two fathers and one mother with symptoms of LUTO suggestive of mild LUTO and one family, in which the unborn male fetal brother of the affected index patient was also diagnosed prenatally with LUTO.
Conclusion:
Our observations suggest that LUTOs have a higher heritability than previously thought and that first-degree relatives of the affected should be clinically assessed for symptoms of LUTO.
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