MYH9 Associated nephropathy

Nefrologia (Engl Ed). 2019 Mar-Apr;39(2):133-140. doi: 10.1016/j.nefro.2018.08.008. Epub 2018 Nov 22.
[Article in English, Spanish]

Abstract

MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a rare group of genetic entities. Its inheritance follows an autosomal dominant pattern. The MYH9 gene, encodes the nonmuscle myosin heavy chain IIA, expressed in different tissues and especially in podocytes and mesangial cells. The disorder is characterized by the presence of macrothrombocytopenia, leukocyte inclusions and a variable risk of developing renal failure, hearing loss and early-onset cataracts. We describe the case of a 27-year-old Caucasian woman, diagnosed initially with idiopathic thrombocytopenic purpura. After a detailed family history and the appearance of renal involvement and hearing loss, genetic testing allowed to make the diagnosis of nephropathy associated with MYH9 mutation. This case is an example of the delayed diagnosis of uncommon diseases and highlights the usefulness genetic testing. A review of the disease is provided.

Keywords: Alport syndrome; Anomalía de May-Hegglin; Epstein syndrome; Hearing loss; Hipoacusia; MYH9 nephropathy; May-Hegglin anomaly; Nefropatía MYH9; Sindrome de Sebastián; Síndrome de Alport; Síndrome de Epstein; Thrombocytopenia; Trombocitopenia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Delayed Diagnosis
  • Diagnosis, Differential
  • Female
  • Genotype
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / therapy
  • Humans
  • Kidney Diseases / diagnosis
  • Kidney Diseases / genetics*
  • Kidney Diseases / therapy
  • Mutation
  • Myosin Heavy Chains / genetics*
  • Phenotype
  • Purpura, Thrombocytopenic, Idiopathic / diagnosis
  • Thrombocytopenia / congenital*
  • Thrombocytopenia / diagnosis
  • Thrombocytopenia / genetics
  • Thrombocytopenia / therapy

Substances

  • MYH9 protein, human
  • Myosin Heavy Chains

Supplementary concepts

  • MYH9-Related Disorders