Table 89-1Genetic Differential Diagnosis |Favorite Table|Download (.pdf) Table 89-1 Genetic Differential Diagnosis
|Syndrome || |
|Associated Findingsa |
|Intermittent acute porphyria (IAP) ||PBGD || |
Pain, hypertension, tachycardia, ascending polyneuropathy, hyponatremia, delirium.
Urine ALA, PBG usually ↑↑
|Hereditary coproporphyria (HCP) ||CPO ||As in IAP, also occasional cutaneous blistering. Urine ALA, PBG ↑↑ during attack, often negative otherwise |
|Variegate porphyria (VP) ||PPO ||Same as HCP |
|ALA dehydratase deficiency porphyria (ADP) ||ALAD ||Similar to IAP, but manifestations more severe; tends to occur in young people. Urine ALA ↑↑, PBG normal |
|Lead toxicity ||- ||Similar to IAP. Urine ALA may be ↑, PBG normal. Elevated blood Pb concentration; decreased ALA dehydratase, reversed with Zn, SH-reducing agents |
|Tyrosinemia ||FAH ||Infantile severe hepatocellular dysfunction, cirrhosis, renal dysfunction, neurologic crises; urine ALA ↑↑, PBG normal. Blood screening (eg, newborn): elevated tyrosine, succinylacetone |
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