MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy
Entity
UAM. Departamento de Medicina; Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD)Publisher
Oxford University Press on behalf of ERA-EDTADate
2019Citation
10.1093/ckj/sfz103
Clinical Kidney Journal 12.4 (2019): 488–493
ISSN
2048-8505 (print); 2048-8513 (online)DOI
10.1093/ckj/sfz103Editor's Version
https://doi.org/10.1093/ckj/sfz103Subjects
Angiotensin; Deafness; Inherited kidney disease; MYH9; Nephritis; Thrombopenia; MedicinaRights
© 2019 Author(s)Abstract
In this issue of ckj, Tabibzadeh et al. report one of the largest series of patients with MYH9 mutations and kidney disease.
The cardinal manifestation of MYH9-related disease is thrombocytopenia with giant platelets. The population frequency of
pathogenic MYH9 mutations may be at least 1 in 20 000. The literature abounds in misdiagnosed cases treated for idiopathic
thrombocytopenic purpura with immune suppressants and even splenectomy. Additional manifestations include
neurosensorial deafness and proteinuric and hematuric progressive kidney disease (at some point, it was called Alport
syndrome with macrothrombocytopenia), leucocyte inclusions, cataracts and liver enzyme abnormalities, resulting in
different names for different manifestation combinations (MATINS, May–Hegglin anomaly, Fechtner, Epstein and Sebastian
syndromes, and deafness AD 17). The penetrance and severity of kidney disease are very variable, which may obscure the
autosomal dominant inheritance. A correct diagnosis will both preclude unnecessary and potentially dangerous
therapeutic interventions and allow genetic counselling and adequate treatment. Morphological erythrocyte, granulocyte
and platelet abnormalities may allow the future development of high-throughput screening techniques adapted to clinical peripheral blood flow cytometers.
Files in this item
Google Scholar:Fernández-Prado, Raúl
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Carriazo-Julio, Sol María
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Torra, Roser
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Ortiz Arduán, Alberto
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Pérez-Gómez, María Vanessa
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