Abstract | AIM: METHODS: RESULTS: Four male patients with Epstein syndrome, all with severe MYH9 gene mutations (p.R702C in three and p.S96L in one), were enrolled. Despite treatment with renin-angiotensin system blockers, nephropathy was refractory and progressed rapidly, and the patients required dialysis or renal transplantation after adolescence. Early preparation for treatment based on early and accurate diagnosis of Epstein syndrome enabled two patients to undergo pre-emptive renal transplantation. For these patients, we kept the platelet count above 100 × 109 /L until day 7 after renal transplantation with platelet transfusions for macrothrombocytopaenia, and no postoperative bleeding episodes occurred. CONCLUSION:
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Authors | Junya Hashimoto, Yuko Hamasaki, Yusuke Takahashi, Mai Kubota, Taketo Yanagisawa, Yoshihiro Itabashi, Masaki Muramatsu, Takeshi Kawamura, Naonori Kumagai, Yoko Ohwada, Ken Sakai, Seiichiro Shishido |
Journal | Nephrology (Carlton, Vic.)
(Nephrology (Carlton))
Vol. 24
Issue 4
Pg. 450-455
(Apr 2019)
ISSN: 1440-1797 [Electronic] Australia |
PMID | 29532554
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2018 Asian Pacific Society of Nephrology. |
Chemical References |
- MYH9 protein, human
- Molecular Motor Proteins
- Myosin Heavy Chains
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Topics |
- Adult
- Child
- Disease Progression
- Genetic Predisposition to Disease
- Hearing Loss, Sensorineural
(complications, diagnosis, genetics)
- Humans
- Kidney Diseases
(diagnosis, etiology, surgery)
- Kidney Transplantation
(methods)
- Living Donors
- Male
- Molecular Motor Proteins
(genetics)
- Mutation
- Myosin Heavy Chains
(genetics)
- Phenotype
- Retrospective Studies
- Thrombocytopenia
(complications, congenital, diagnosis, genetics)
- Treatment Outcome
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