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Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease

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Abstract

Introduction

Medullary cystic kidney disease type 1 (MCKD1; OMIM #174000) is a familial progressive tubule-interstitial nephropathy belonging to the recently defined group of autosomal dominant tubulointerstitial kidney diseases (ADTKD).

Case report

A specific type of cytosine insertion in the extracellular variable number tandem repeat (VNTR) domain of the MUC1 gene causing the disease was tested in a group of 21 families with ADTKD. We identified this type of MUC1 mutation in two families, whose affected members are described in detail in this case report. Affected (ADTKD-MUC1) members developed end-stage renal disease (ESRD) with a higher incidence (p = 0.033) and at a younger age (p = 0.013) than probands with ADTKD but without this type of mutation. All patients with MUC1-associated kidney disease shared a rather unspecific tubule-interstitial laboratory pattern without medullary cysts, leading to ESRD between the age of 33 and 47 years. We were not able to identify any single common extra-renal feature among affected patients, even if they had various comorbidities, which are described in detail.

Conclusions

We identified this type of MUC1 mutation in 9.5 % of families from an ADTKD Italian cohort; larger studies are needed to better define the criteria for genetic testing for this type of mutation.

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Author information

Authors and Affiliations

  1. Department of Translational Medicine, Nephrology and Transplantation, University Piemonte Orientale, Novara, Italy

    Claudio Musetti, Marco Quaglia, Vincenzo Cantaluppi & Piero Stratta

  2. Laboratory of Genetics, Department of Health Sciences and IRCAD, University Piemonte Orientale, Novara, Italy

    Deepak Babu, Ileana Fusco, Simona Mellone, Andrea Zonta & Mara Giordano

Authors
  1. Claudio Musetti
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  2. Deepak Babu
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  3. Ileana Fusco
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  4. Simona Mellone
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  5. Andrea Zonta
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  6. Marco Quaglia
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  7. Vincenzo Cantaluppi
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  8. Piero Stratta
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  9. Mara Giordano
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Corresponding author

Correspondence to Claudio Musetti.

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Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Funding

This project was partially supported by the grant from the Società Italiana di Nefrologia “Borse di Studio e Ricerca Indipendente 2014”. The PhD fellowship of CM is supported by the non-profit organization “Fondazione DeAgostini”, to which we are sincerely thankful.

Ethical approval

All study procedures were in accordance with the ethical standards of our Institution and with the 1964 Helsinki declaration and its later amendments.

Informed consent

All patients screened signed a written informed consent for genetic testing and for their inclusion in this study.

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Musetti, C., Babu, D., Fusco, I. et al. Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease. J Nephrol 29, 451–455 (2016). https://doi.org/10.1007/s40620-016-0282-9

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  • DOI: https://doi.org/10.1007/s40620-016-0282-9

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