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01-03-2009 | Clinical Quiz

Thrombocytopenia and proteinuria: answer

Authors: Amit Bhatt, Emmett Broxson, David Witte, Abiodun Omoloja

Published in: Pediatric Nephrology | Issue 3/2009

Excerpt

History of hearing impairment. The patient had mild high-frequency hearing impairment diagnosed several years before abnormal urinalysis was discovered. She refused to wear hearing aids for cosmetic reasons.

Nonmuscle myosin heavy-chain-9-related disease (MYH9 RD) or Epstein syndrome (ES).

Genetic testing. MYH9 RD was confirmed via genetic testing that demonstrated the presence of a missense mutation C→T at position 287 in exon 1 of the MYH9 gene, resulting in the amino acid substitution of serine for leucine at amino acid 96 [1].

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Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A (2003) MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 82:203–215

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Title: Thrombocytopenia and proteinuria: answer
Authors: Amit Bhatt
Emmett Broxson
David Witte
Abiodun Omoloja
Publication date: 01-03-2009
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Nephrology / Issue 3/2009
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-008-0938-3

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Thrombocytopenia and proteinuria: answer

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