Familial congenital lower urinary tract obstruction (LUTO) suggested by screening for lower urinary tract dysfunction in parents of patients: A descriptive study

Author:

Ebach Fabian1,Wagner Pauline1,Stein Raimund2,Dolscheid‐Pommerich Ramona3,Reutter Heiko4ORCID,Hilger Alina C.56ORCID

Affiliation:

1. Department of Neonatology and Pediatric Intensive Care University Hospital Bonn Bonn Germany

2. Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Medical Faculty Mannheim Heidelberg University Mannheim Germany

3. Department of Clinical Chemistry and Clinical Pharmacology University Hospital Bonn Bonn Germany

4. Department of Pediatrics and Adolescent Medicine, Division of Neonatology and Pediatric Intensive Care University Hospital Erlangen Erlangen Germany

5. Department of Pediatrics and Adolescent Medicine University Hospital Erlangen Erlangen Germany

6. Research Center on Rare Kidney Diseases (RECORD) University Hospital Erlangen Erlangen Germany

Abstract

AbstractBackgroundCongenital 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.MethodsThe 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.ResultsTwenty‐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.ConclusionOur 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.

Publisher

Wiley

Reference25 articles.

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2. Lower urinary tract development and disease

3. The EMMES Corporation. NAPRTCS‐2008 annual report: renal transplantation‐dialysis‐chronic renal insufficiency; 2008. Accessed September 8 2022.https://www.naprtcs.org/system/files/2008_Annual_CKD_Report.pdf.

4. The fetal lung 2: pulmonary hypoplasia

5. Posterior urethral valves in three siblings: A case report and review of the literature

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