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CKD in MYH9-related disorders

Neeraj Singh1, Neha Nainani, Pradeep Arora

  • 1Department of Internal Medicine, Section of Nephrology, The Ohio State University, Columbus, OH, USA. neeraj.singh@osumc.edu

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|September 4, 2009
PubMed

Insights

MYH9-related disorders, rare genetic conditions causing chronic kidney disease (CKD), are linked to MYH9 gene mutations. These disorders, presenting in childhood with blood abnormalities, can lead to end-stage renal disease later in life.

Area of Science:

  • Nephrology
  • Genetics
  • Hematology

Background:

  • MYH9-related disorders are rare genetic conditions causing chronic kidney disease (CKD).
  • They stem from mutations in the MYH9 gene, encoding nonmuscle myosin heavy chain IIA.
  • These autosomal dominant disorders include May-Hegglin anomaly, Sebastian, Fechtner, and Epstein syndromes.

Purpose of the Study:

  • To review the association between MYH9-related disorders and CKD.
  • To highlight recent discoveries concerning the MYH9 gene.
  • To explain the increased CKD risk in African Americans with MYH9 gene alterations.

Main Methods:

  • Review of existing literature on MYH9-related disorders and CKD.
  • Analysis of diagnostic criteria, including peripheral-blood smear findings.
  • Examination of genetic evidence linking MYH9 alterations to specific kidney conditions.

Main Results:

  • Diagnosis in childhood is based on thrombocytopenia, giant platelets, and leukocyte inclusions.
  • CKD develops in adulthood, potentially progressing to end-stage renal disease.
  • MYH9 gene alterations are linked to increased risk of focal segmental glomerulosclerosis and hypertensive nephrosclerosis in African Americans.

Conclusions:

  • MYH9-related disorders are an under-recognized cause of CKD.
  • Genetic factors, particularly MYH9 alterations, contribute significantly to CKD burden in certain populations.
  • Understanding these genetic links is crucial for diagnosis and management of CKD.

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