[Generalized saturnine paralysis. Discovery of a double congenital disease: glucose-6-phosphate dehydrogenase deficiency (new variant) and distal tubular acidosis].
A case of severe lead poisoning with haemolytic anemia, extensive polyneuropathy and arterial hypertension is reported in a patient for whom G-6-P-D deficiency and renal tubular acidosis were discovered. Both traits were present in his family. Incomplete regression of paralysis and persistant biological abnormalities after chelating treatment were demonstrative of heavy saturnine load even though the toxic exposure was brief. The role of the two deficiencies in the mechanism of intoxication is discussed: facilitation of haemolysis by enzymopathy and bone lead redistribution resulting from osteolysis probably due to the tubulopathy. The authors emphasize the fact that thorough and serial biological investigation is essential in the discovery of factors which may precipitate lead poisoning, as well as in the determination of follow-up criteria of efficient toxic epuration with sufficient delay. Typing of the enzyme has led to the identification of a new variant of glucose-6-phosphate dehydrogenase deficiency.
D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D000328:Adult; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000235:genetics; D006801:Humans; D007855:Lead Poisoning / Q000150:complications* / Q000201:enzymology; D008297:Male; D010243:Paralysis / Q000139:chemically induced* / Q000201:enzymology; D010375:Pedigree; D011115:Polyneuropathies / Q000139:chemically induced*
Paralysie saturnine généralisée. Découverte d'une double affection congénitale: déficit en glucose-6 phosphate déshydrogénase (variante nouvelle) et acidose tubulaire distale.