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01-04-2011 | Original Article

Renal manifestations of patients with MYH9-related disorders

Authors: 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

Published in: Pediatric Nephrology | Issue 4/2011

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.

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Title: Renal manifestations of patients with MYH9-related disorders
Authors: 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
Publication date: 01-04-2011
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 4/2011
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-010-1735-3

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Springer Medicine

Renal manifestations of patients with MYH9-related disorders

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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