MYH9-related disease : it does exist, may be more frequent than you think and requires specific therapy
Fernandez-Prado, Raul (Red de Investigación Renal (REDINREN))
Carriazo-Julio, Sol Maria (Red de Investigación Renal (REDINREN))
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau)
Ortiz, Alberto (Red de Investigación Renal (REDINREN))
Pérez-Gómez, Maria Vanessa (Red de Investigación Renal (REDINREN))
Universitat Autònoma de Barcelona

Fecha:	2019
Resumen:	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.
Ayudas:	Instituto de Salud Carlos III PI15-00298 Instituto de Salud Carlos III CP14-00133 Instituto de Salud Carlos III PI16-02057 Instituto de Salud Carlos III PI16-01900 Instituto de Salud Carlos III PI18-00362 Instituto de Salud Carlos III PI18-01366
Nota:	Altres ajuts: Sources of support: FIS/Fondos FEDER (REDinREN RD016/0009), Sociedad Española de Nefrología, FRIAT, Comunidad de Madrid en Biomedicina B2017/BMD-3686 CIFRA2-CM. Salary support: ISCIII Rio Hortega to M.V.P.-G.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Angiotensin ; Deafness ; Inherited kidney disease ; MYH9 ; Nephritis ; Thrombopenia
Publicado en:	Clinical Kidney Journal, Vol. 12 (august 2019) , p. 488-493, ISSN 2048-8513

DOI: 10.1093/ckj/sfz103
PMID: 31384439

6 p, 1.0 MB

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