Skip to main content

Advertisement

SpringerLink
Log in

Polycystic kidney disease associated with intracranial hypertension revealing a mutation of the OFD1 gene

  • Lessons for the Clinical Nephrologist
  • Published:
Journal of Nephrology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Data availability

Data is available if request to authors.

References

  1. Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K et al (2016) Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease. Am J Hum Genet 98(6):1193–1207

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM et al (2018) Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease. Am J Hum Genet 102(5):832–844

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E et al (2009) Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol JASN 20(1):205–212

    Article  CAS  PubMed  Google Scholar 

  4. Belibi FA, Edelstein CL (2009) Unified ultrasonographic diagnostic criteria for polycystic kidney disease. J Am Soc Nephrol JASN 20(1):6–8

    Article  PubMed  Google Scholar 

  5. Chapman AB, Devuyst O, Eckardt K-U, Gansevoort RT, Harris T, Horie S et al (2015) Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int 88(1):17–27

    Article  PubMed  PubMed Central  Google Scholar 

  6. Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y et al (2006) Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet 43(1):54–61

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Scolari F, Valzorio B, Carli O, Vizzardi V, Costantino E, Grazioli L et al (1997) Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease. Nephrol Dial Transplant Off Publ Eur Dial Transpl Assoc 12(6):1247–1250

    Article  CAS  Google Scholar 

  8. Odent S, Le Marec B, Toutain A, David A, Vigneron J, Tréguier C et al (1998) Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet 75(4):389–394

    Article  CAS  PubMed  Google Scholar 

  9. Del Giudice E, Macca M, Imperati F, D’Amico A, Parent P, Pasquier L et al (2014) CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet J Rare Dis 10(9):74

    Article  Google Scholar 

  10. Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L et al (2010) Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet 77(3):258–265 (11)

    Article  CAS  PubMed  Google Scholar 

  11. Capuano I, Buonanno P, Riccio E, Crocetto F, Pisani A (2022) Parapelvic cysts: an imaging marker of kidney disease potentially leading to the diagnosis of treatable rare genetic disorders? A narrative review of the literature. J Nephrol 35(8):2035–2046. https://doi.org/10.1007/s40620-022-01375-0

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

The authors wish to thank Teresa Sawyers, medical writer at the BESPIM, Nîmes University Hospital, France, for her expertise in revising and editing this paper.

Author information

Authors and Affiliations

  1. Service de Néphrologie Dialyse Aphérèse, Nîmes Hôpital Universitaire, Nîmes, France

    Céline Schultz & Olivier Moranne

  2. Département de Cytogénétique et Génétique Médicale, Hôpital Carémeau, CHU Nîmes, Nîmes University Hospital, Nîmes, France

    Jean Chiesa & Van Kien Philippe Khau

  3. Service de Génétique Médicale et Biologie de la Reproduction, CHRU, Brest, France

    Audrézet Marie-Pierre

  4. IDESP, UMR-INSERM, Montpellier, France

    Olivier Moranne

Authors
  1. Céline Schultz
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jean Chiesa
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Van Kien Philippe Khau
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Audrézet Marie-Pierre
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Olivier Moranne
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Olivier Moranne.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards declaration and its later amendments or comparable ethical standards.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Schultz, C., Chiesa, J., Philippe Khau, V. et al. Polycystic kidney disease associated with intracranial hypertension revealing a mutation of the OFD1 gene. J Nephrol 36, 643–645 (2023). https://doi.org/10.1007/s40620-022-01481-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s40620-022-01481-z

Keywords

Search

Navigation