MYH9-related disorders display heterogeneous kidney involvement and outcome.

Journal: Clinical kidney journal
Published Date: Dec 17, 2018

Abstract

BACKGROUND: MYH9-related diseases (MYH9-RD) are autosomal dominant disorders caused by mutations of the gene encoding the non-muscle myosin heavy chain IIA. They are characterized by congenital thrombocytopenia, giant platelets and leucocyte inclusions. Hearing impairment, pre-senile cataract and nephropathy can also occur. We aimed to evaluate renal involvement and outcome in MYH9-RD patients followed-up by nephrologists.

Authors

  • Nahid Tabibzadeh
    Explorations Fonctionnelles Rénales, APHP Hôpital Bichat, DHU FIRE, CRI-Inserm U1149 et Université Paris Diderot, Paris, France.
  • Dominique Fleury
    Néphrologie et Médecine Interne, CH Valenciennes, Valenciennes, France.
  • Delphine Labatut
    Néphrologie, CH Niort, Niort, France.
  • Frank Bridoux
    Néphrologie, CHU Poitiers, Poitiers, France.
  • Arnaud Lionet
    Néphrologie, CHRU Lille, Lille, France.
  • Noémie Jourde-Chiche
    Département de Néphrologie, Dialyse et Transplantation, Hôpital de la Conception, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
  • François Vrtovsnik
    Néphrologie, APHP Hôpital Bichat, DHU FIRE, CRI-Inserm U1149 et Université Paris Diderot, Paris, France.
  • Nicole Schlegel
    CRCMH Pathologies Plaquettaires Robert Debré, APHP Hôpital Robert Debré, Paris, France.
  • Philippe Vanhille
    Néphrologie et Médecine Interne, CH Valenciennes, Valenciennes, France.

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