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Dent disease in Poland: what we have learned so far?

  • Nephrology - Original Paper
  • Published:
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Abstract

Purpose

Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland.

Methods

A retrospective analysis of a national cohort with genetically confirmed diagnosis.

Results

Of 24 males, all patients except one carried mutations in the CLCN5 gene; in one patient a mutation in the OCRL gene was disclosed. Molecular diagnosis was delayed 1 year on average (range 0–21 years). The most common features were tubular proteinuria (100%), hypercalciuria (87%), and nephrocalcinosis (56%). CKD (≤stage II) and growth deficiency were found in 45 and 22% of patients, respectively. Over time, a progression of CKD and persistence of growth impairment was noted. Subnephrotic and nephrotic proteinuria (20%) was found in most patients, but tubular proteinuria was assessed in only 67% of patients. In one family steroid-resistant nephrotic syndrome prompted a genetic testing, and reverse phenotyping. Five children (20%) underwent kidney biopsy, and two of them were treated with immunosuppressants. Hydrochlorothiazide and angiotensin-converting enzyme inhibitors were prescribed for a significant proportion of patients (42 and 37.5%, respectively), while supplemental therapy with phosphate, potassium, vitamin D (12.5% each), and alkali (4.2%) was insufficient, when compared to the percentages of patients requiring repletion.

Conclusions

We found CLCN5 mutations in the vast majority of Polish patients with DD. Proteinuria was the most constant finding; however, tubular proteins were not assessed commonly, likely leading to delayed molecular diagnosis and misdiagnosis in some patients. More consideration should be given to optimize the therapy.

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Acknowledgements

We are grateful to the patients and their parents for their invaluable contributions. We thank the Polish Registry of Inherited Tubulopathies (POLtube) and all physicians (listed below), who helped with patient recruitment and contributed with data of their patients. Danuta Zwolińska (Department of Pediatric Nephrology, Wrocław Medical University, Wrocław), Anna Moczulska (Department of Pediatric Nephrology, Kraków), Anna Niemirska, Dariusz Runowski (Department of Nephrology & Kidney Transplantation, The Children’s Memorial Health Institute, Warsaw), Hanna Szymanik-Grzelak (Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw), Anna Wasilewska (Department of Pediatrics and Nephrology, Medical University, Białystok) all from Poland, and Franz Schaefer (Division of Paediatric Nephrology, Centre for Pediatric and Adolescent Medicine, Heidelberg, Germany). Part of the research leading to these results (F19 family testing) has received funding from the European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 2012-305608 (EURenOmics) and from Bundesministerium für Bildung und Forschung (BMBF) through the e-Rare initiative (PodoNet).

Author information

Authors and Affiliations

  1. Children’s Hospital, ul. Krysiewicza 7/8, 61-825, Poznan, Poland

    Marcin Zaniew

  2. Polish Registry of Inherited Tubulopathies (POLtube), Polish Society of Pediatric Nephrology, Poznan, Poland

    Marcin Zaniew & Przemysław Sikora

  3. Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland

    Małgorzata Mizerska-Wasiak

  4. Department of Pediatrics, Nephrology and Hypertension, Medical University of Gdańsk, Gdańsk, Poland

    Iga Załuska-Leśniewska

  5. Department and Clinics of Pediatrics, SMDZ, Medical University of Silesia in Katowice, Zabrze, Poland

    Piotr Adamczyk & Maria Szczepańska

  6. Department of Pediatric Nephrology, Wrocław Medical University, Wrocław, Poland

    Katarzyna Kiliś-Pstrusińska

  7. Department of Urology, Regional Hospital, Nowa Sól, Poland

    Adam Haliński

  8. Department of Nephrology and Kidney Transplantation, The Children’s Memorial Health Institute, Warsaw, Poland

    Jan Zawadzki

  9. Department of Biology and Medical Genetics, Clinical Genetics Unit, Medical University of Gdańsk, Gdańsk, Poland

    Beata S. Lipska-Ziętkiewicz

  10. Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland

    Krzysztof Pawlaczyk

  11. Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland

    Przemysław Sikora

  12. Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany

    Michael Ludwig

Authors
  1. Marcin Zaniew
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  2. Małgorzata Mizerska-Wasiak
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  6. Adam Haliński
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  11. Michael Ludwig
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  12. Maria Szczepańska
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Corresponding author

Correspondence to Marcin Zaniew.

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All other authors have declared no competing interests.

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Zaniew, M., Mizerska-Wasiak, M., Załuska-Leśniewska, I. et al. Dent disease in Poland: what we have learned so far?. Int Urol Nephrol 49, 2005–2017 (2017). https://doi.org/10.1007/s11255-017-1676-x

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  • DOI: https://doi.org/10.1007/s11255-017-1676-x

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