Article
Worsening of the clinical-hematological picture in a patient with a rare PK-LR compound heterozygosis after mitral replacement.
Clinical biochemistry - 1 Oct 2011
Minucci Angelo, Ricerca Bianca Maria, Tripodi Domenico, Matarazzo Lucia, De Michele Teresa, Giardina Bruno, Zuppi Cecilia, Capoluongo Ettore
Abstract excerpt
We report a case of a patient affected by compound heterozygosis for two PK-LR gene mutations: p.R486W (c.1456C>T) and p.M403I (c.1209G>A). Our patient suffered from an initial moderate hemolytic anemia which subsequently evolved into a severe form after mitral prosthetic valve replacement for valve regurgitation. Thereafter, the clinical features evolved into a worsening of anemia, heart failure and pulmonary...
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