Pediatric Nephrology

, Volume 26, Issue 4, pp 549–555 | Cite as

Renal manifestations of patients with MYH9-related disorders

  • Kyoung Hee Han
  • HyunKyung Lee
  • Hee Gyung Kang
  • Kyung Chul Moon
  • Joo Hoon Lee
  • Young Seo Park
  • Il Soo Ha
  • Hyo Seop Ahn
  • Yong Choi
  • Hae Il Cheong
Original Article

Abstract

MYH9-related disorders are a group of autosomal, dominantly inherited disorders caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA (NMMHC-IIA). May–Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes belong to this group. Macrothrombocytopenia is a common characteristic associated with MYH9-related disorders, and basophilic cytoplasmic inclusion bodies in leukocytes (Döhle-like bodies), deafness, cataracts, and glomerulopathy are also found in some patients. In this study, renal manifestations of 7 unrelated Korean patients with MYH9-related disorders were analyzed. Of a total of 7 patients, 4 had disease-related family histories. One familial case had a mutation in the tail domain of NMMHC-IIA and showed milder renal involvement with preserved renal function by his 30s. Among the 3 familial cases without renal involvement, 2 had mutations in the tail domain of NMMHC-IIA and 1 had a mutation in the motor domain. The remaining 3 sporadic cases had severe renal involvement with rapid progression to end-stage renal disease and mutations located in the motor domain. In summary, mutations in the motor domain of NMMHC-IIA and negative family history were associated with severe renal involvement in patients with MYH9-related disorders. These results are in agreement with those of previous reports.

Keywords

MYH9 gene Glomerulopathy MYH9-related disorder Family history Non-muscle myosin heavy chain IIA Motor domain Tail domain 

Notes

Acknowledgement

This study was supported by a grant of the Korea Healthcare technology R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea (A080588).

Conflicts of interest

None.

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Copyright information

© IPNA 2011

Authors and Affiliations

  • Kyoung Hee Han
    • 1
  • HyunKyung Lee
    • 1
  • Hee Gyung Kang
    • 1
    • 2
  • Kyung Chul Moon
    • 3
    • 4
  • Joo Hoon Lee
    • 5
  • Young Seo Park
    • 5
  • Il Soo Ha
    • 1
    • 4
  • Hyo Seop Ahn
    • 1
  • Yong Choi
    • 6
  • Hae Il Cheong
    • 1
    • 2
    • 4
  1. 1.Department of PediatricsSeoul National University Children’s HospitalSeoulSouth Korea
  2. 2.Research Center for Rare DiseasesSeoul National University HospitalSeoulSouth Korea
  3. 3.Department of PathologySeoul National University HospitalSeoulSouth Korea
  4. 4.Kidney Research Institute, Medical Research CenterSeoul National University College of MedicineSeoulSouth Korea
  5. 5.Department of Pediatrics, Asan Medical CenterUniversity of Ulsan College of MedicineSeoulSouth Korea
  6. 6.Department of PediatricsInje University Haeundae Paik HospitalBusanSouth Korea

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