ABSTRACT
Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder associated with rhabdomyolysis. The adult form of CPT2 deficiency is usually "benign", characterized by episodes of rhabdomyolysis without extramuscular manifestations and with a good outcome, while the infantile type characteristically presents with severe metabolic symptoms such as hypoketotic hypoglycemia. We present here a case of severe rhabdomyolysis with acute renal failure and hypoglycemia in an adult patient with CPT2 deficiency.
Subject(s)
Carnitine O-Palmitoyltransferase/deficiency , Carnitine O-Palmitoyltransferase/genetics , Hypoglycemia/etiology , Rhabdomyolysis/etiology , Adult , Humans , Male , Mitochondria/enzymology , Severity of Illness IndexSubject(s)
Adrenal Gland Neoplasms/blood , Neutrophils/pathology , Pheochromocytoma/blood , Female , Humans , Male , Middle AgedSubject(s)
Biliary Fistula/etiology , Duodenal Obstruction/etiology , Gallstones/complications , Intestinal Fistula/etiology , Aged , Biliary Fistula/diagnosis , Biliary Fistula/surgery , Cholecystectomy , Duodenal Obstruction/diagnosis , Duodenal Obstruction/surgery , Female , Gallstones/diagnosis , Gallstones/surgery , Humans , Intestinal Fistula/diagnosis , Intestinal Fistula/surgery , Treatment OutcomeSubject(s)
Pancreatitis/microbiology , Salmonella Infections , Salmonella enteritidis , Acute Disease , Humans , Male , Middle AgedABSTRACT
A severe but unusual complication of sickle cell vaso-occlusive crisis is acute liver failure related to intrahepatic cholestasis. The outcome is usually fatal in adults. A case of reversible acute liver failure in a patient with s/beta+ thalassemia is reported. The patient was admitted to the intensive care unit because of major organ failure related to vascular occlusion phenomena. After blood-plasma transfusion and supportive therapy for acute liver failure, complete recovery was noted. A liver biopsy performed at the stage of recovery was compatible with intrahepatic cholestasis and sickling. Even though patients with s/beta+ thalassemia usually manifest milder symptoms, they rarely develop major organ failure such as acute liver failure.
Subject(s)
Ischemia/etiology , Liver Failure/therapy , Liver/blood supply , Sickle Cell Trait/complications , Acute Disease , Adult , Anti-Bacterial Agents , Biopsy , Cholestasis, Intrahepatic/etiology , Combined Modality Therapy , Drug Therapy, Combination/therapeutic use , Erythrocyte Transfusion , Humans , Lactulose/therapeutic use , Liver/pathology , Liver Circulation , Liver Failure/etiology , Male , Plasma , beta-Thalassemia/complicationsABSTRACT
Spironolactone, 200 mg/24 hours, was administered for 4 days to 18 clinically healthy subjects and 10 hospitalised patients with normal renal function. Changes of fractional renal clearance of magnesium before and after spironolactone administration were studied in the first group. Corresponding changes of the ratio of renal clearance of potassium to renal clearance of magnesium were studied in the second group. After spironolactone administration, fractional clearance of magnesium showed a statistically significant decrease in relation to its values before spironolactone administration, while the ratio clearance of potassium/clearance of magnesium showed no statistically significant change. The results suggest that spironolactone administration decreases the renal excretion of magnesium and potassium in an equivalent manner.
