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High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

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Abstract

Background

Congenital anomalies of the kidney and urinary tract (CAKUT) commonly cause chronic kidney disease in children. While most CAKUT cases are sporadic, observed familial clustering suggests that the pathogenesis is influenced by genetic factors.

Methods

The purpose of the present study is to determine the frequency of the kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT. A total of 218 index patients and their families followed at an academic hospital in Ankara, Turkey, were enrolled in the study.

Results

Family histories revealed at least one other member with a known kidney or urinary tract disease in 50 % and CAKUT in 22.9 % of the families. All asymptomatic first-degree relatives of 180 index patients were screened for kidney and urinary tract anomalies using ultrasound. New anomalies were diagnosed in 116 asymptomatic first-degree relatives (23 %) in 87 families (48.3 %). When family histories and ultrasound findings of 180 index patients were evaluated together, 129 first-degree relatives in 92 families (51.1 %) had CAKUT.

Conclusions

This study suggests that genetic mechanisms might be very important in the pathogenesis of apparently sporadic CAKUT. Identification of the underlying gene mutations will provide further insights into the knowledge of the kidney and urinary tract development and pathogenesis of CAKUT.

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Authors and Affiliations

  1. Division of Pediatric Nephrology, Ankara University School of Medicine, 06100, Ankara, Turkey

    Burcu Bulum, Z. Birsin Özçakar, Aslı Kavaz & Fatoş Yalçınkaya

  2. Division of Radiology, Ankara University School of Medicine, 06100, Ankara, Turkey

    Evren Üstüner, Ebru Düşünceli & Suat Fitoz

  3. Division of Pediatric Genetics, Ankara University School of Medicine, 06100, Ankara, Turkey

    Duygu Duman & Mustafa Tekin

  4. John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA

    Katherina Walz & Mustafa Tekin

Authors
  1. Burcu Bulum
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  2. Z. Birsin Özçakar
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  3. Evren Üstüner
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  4. Ebru Düşünceli
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  6. Duygu Duman
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  7. Katherina Walz
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  8. Suat Fitoz
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  9. Mustafa Tekin
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  10. Fatoş Yalçınkaya
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Corresponding author

Correspondence to Fatoş Yalçınkaya.

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Bulum, B., Özçakar, Z.B., Üstüner, E. et al. High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT. Pediatr Nephrol 28, 2143–2147 (2013). https://doi.org/10.1007/s00467-013-2530-8

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  • DOI: https://doi.org/10.1007/s00467-013-2530-8

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