Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0432222 (SEM)
 47,337 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The disappearance of IV injected [24-14C]cholic acid from plasma was studied in normal and mutant Corriedale and Southdown sheep exhibiting hereditary defects in hepatic organic anion transport. Hepatic cholic acid clearance was determined from the integral of the 40-minute disappearance curves fit to the sums of two exponential functions. Cholic acid clearance among Corriedale sheep was significantly less (P less than 0.05) for mutant sheep (8.44 +/- 0.86 SEM ml/minute/kg of body weight) than for normal sheep (12.7 +/- 0.58 ml/minute/kg). Cholic acid clearance in the Southdown mutant (1.97 +/- 0.59 ml/minute/kg) was less than 15% of normal clearance rate (13.3 +/- 2.2 ml/minute/kg). Clearance of [14C]taurocholic acid (curves fit to three exponential function) in the Southdown mutant (10.8 +/- 0.4 ml/minute/kg) was significantly greater (P less than 0.01) than cholic acid clearance, yet was not significantly different (P greater than 0.05) from normal taurocholate clearance (17.8 +/- 2.5 ml/minute/kg). Hepatic regurgitation of conjugated bile acid was not detected after [14C]cholic acid injection. Both the mutant Corriedale and Southdown sheep, which exhibited inherited defects in hepatic bilirubin transport similar to Dubin-Johnson syndrome and Gilbert's disease in man, exhibited defects in hepatic bile acid clearance.
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PMID:Bile acid clearance in sheep with hereditary hyperbilirubinemia. 52 32

Urinary total, isomer I and isomer III coproporphyrin excretion was determined in 11 patients with Rotor's syndrome, 23 phenotypically normal family members, 16 patients with the Dubin-Johnson syndrome and 20 normal control subjects. Control subjects excreted 24.8 +/- 1.3 per cent (mean SEM) of urinary coproporphyrin as isomer I. Patients with the Dubin-Johnson syndrome excreted 88.9 +/- 1.3 per cent as urinary coproporphyrin I, and patients with Rotor's syndrome excreted 64.8 +/- 2.5 per cent as urinary coproporphyrin I, significantly different from the control subjects and the patients with the Dubin-Johnson syndrome (p less than 0.001). Eight phenotypically normal parents and children of patients with Rotor's syndrome excreted 42.9 +/- 5.4 per cent as urinary coproporphyrin I, intermediate between results in patients with Rotor's syndrome and control subjects (p less than 0.001). Total urinary coproporphyrin excretion was markedly increased in patients with Rotor's syndrome (332 +/- 86 mug/g creatinine) as compared to that in control subjects (p less than 0.001) or obligate heterozygotes (p less than 0.025). With respect to urinary coproporphyrin excretion, Rotor's syndrome and Dubin-Johnson syndrome are both inherited as autosomal recessive traits and are separate pathophysiologic entities. Study of rare but distinct inheritable disorders, such as these, provide insight into the functional dissociation of hepatic transport mechanisms.
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PMID:Rotor's syndrome. A distinct inheritable pathophysiologic entity. 76 21