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Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán

1999, Number 2

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Rev Biomed 1999; 10 (2)

Paroxysmal Nocturnal Haemoglobinuria: notes on its history.

Góngora-Biachi RA, González-Martínez P

Language: Spanish
References: 41
Page: 129-136
PDF size: 35.51 Kb.


ABSTRACT

Paroxysmal Nocturnal Haemoglobinuria (PNH) was first described by William Gull in London, England, 1866 and since that first description, it represents a good example of the concepts and knowledge of a disease through time. William Gull is given the merit of having described the pigment excreted in the urine didn't correspond to the red blood cells. In 1882, Paul Strubing published the following description of PNH. He showed the association between haemoglobinuria and physical exercise, he proposed that the abnormality resided in the red blood cells, which on circulating through the kidneys, sufferred haemolysis. He was the first person to describe the assocciation between the administration of iron and the haemolysis crisis, and he interpreted this phenomen as secondary to the production of new abnormal cells. The name of PNH was established by Enneking in 1928. In 1911 Hijmans-van den Bergh demonstrated of normal serum, or of patients with PNH, induced lysis in the red blood cells at patients with PNH. Howe ver, it was Thomas Hale Ham, in 1937, who proposed that the defect of the red blood cells in the PNH consisted in a greater susceptibility to the lysis by the complement (C'). In 1983, Pangburn and col. and the Nicholson- Weller group described a quantitive decrease of the factor that accelerates the degradation of the convertasas of the C' fixed in the membrane (DAF = "decay accelerating factor", or CD55) in PNH. In 1987 and 1988 Zalman and cols. (19) and Blaas and cols. (20) respectively described the deficiency of the C8 (C8bp) fixing protein in these cells or homologous restriction factor (HRF). In 1989, Holguin and cols. demonstrated the red blood cell-NPH III to be defective in the regulating protein of the C5-9 fraction, the reactive lysis membrane inhibitor or CD59. In 1992, Mahoney and cols. and Hirose and his group demonstrated that in NPH, the synthesis of the glycosyl phosphatidylinositol (PIG) was defective which in turn, prevented the anchoring of the aforementioned proteins. Studies carried out by Takeda and cols., in the University of Osaka, Japan, published in 1993, on cloning the gene of the PIG (gene PIG-A) identified a somatic mutation which caused the loss of the function of the gene PIG-A. Actually it is postulated that the PNH clone emerges in defense to some external or internal factor which inhibits the normal haemotopoyesis, but it is incapable of inhibiting the haemotopoyetic cells which are deficient in the proteins anchored in the PIG.


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