Chaves M, Vives-Corrons J L, Sáenz G F, Pujades M A, Briceño J, Colomer D
Cátedra de Hematología, Facultad de Microbiología, Universidad de Costa Rica.
Sangre (Barc). 1990 Apr;35(2):128-33.
The two first homozygous (or double heterozygous) cases of pyruvate kinase (PK) deficiency found in a Costa Rica family with no signs of consanguinity are reported. The clinical manifestations of the deficiency were present in both cases, these being enhanced in one of them by pregnancy. The family study performed showed the heterozygous character of the PK deficiency in all cases, plus the demonstration in two instances (father and brother) of a heterozygous haemoglobin C disease. The importance of the PK/HK quotient in the identification of the PK deficiency heterozygous is stressed, especially when the enzyme activity registered from haemolysates falls within the normal range.
报道了在一个无血缘关系迹象的哥斯达黎加家庭中发现的首例两例纯合子（或双杂合子）丙酮酸激酶（PK）缺乏症病例。两例均出现了该缺乏症的临床表现，其中一例因怀孕而加重。所进行的家系研究表明，所有病例中PK缺乏均呈杂合子特征，另外在两例（父亲和兄弟）中证实存在杂合子血红蛋白C病。强调了PK/HK商数在鉴定PK缺乏杂合子中的重要性，尤其是当从溶血产物测得的酶活性落在正常范围内时。
