TY - JOUR
T1 - Worsening of the clinical-hematological picture in a patient with a rare PK-LR compound heterozygosis after mitral replacement
AU - Minucci, Angelo
AU - Ricerca, Bm
AU - Tripodi, Domenico
AU - Matarazzo, Lucia
AU - De Michele, Teresa
AU - Giardina, Bruno
AU - Zuppi, Cecilia
AU - Capoluongo, Ettore Domenico
PY - 2011
Y1 - 2011
N2 - We report a case of a patient affected by compound heterozygosis for two PK-LR gene mutations: p.R486W (c.1456C>T) and p.M4031(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 hypertension, in the absence of valve dysfunction. This clinical picture improved only after an intensive transfusion regimen. This case highlights aspects concerning the intricate balance between the risks and benefits of a mechanical prosthetic valve implant in PM-deficient patients.
AB - We report a case of a patient affected by compound heterozygosis for two PK-LR gene mutations: p.R486W (c.1456C>T) and p.M4031(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 hypertension, in the absence of valve dysfunction. This clinical picture improved only after an intensive transfusion regimen. This case highlights aspects concerning the intricate balance between the risks and benefits of a mechanical prosthetic valve implant in PM-deficient patients.
KW - Hemolytic anemia
KW - Mitral valve replacement
KW - Pulmonary hypertension
KW - Pyruvate kinase deficiency
KW - Hemolytic anemia
KW - Mitral valve replacement
KW - Pulmonary hypertension
KW - Pyruvate kinase deficiency
UR - http://hdl.handle.net/10807/3348
U2 - 10.1016/j.clinbiochem.2011.07.007
DO - 10.1016/j.clinbiochem.2011.07.007
M3 - Article
SN - 0009-9120
VL - 44
SP - 1261
EP - 1263
JO - Clinical Biochemistry
JF - Clinical Biochemistry
ER -