(AIP), due to sustained vasospasm, appears to exist.1 Hyponatremia is a common complication in this disease, that is usually related to a syndrome of inappropriate secretion of antidiuretic hormone (SIADH).2,3 Rhabdomyolysis may be a frequent complication during hyponatremia correction in which elevation of creatine phosphokinase (CPK) levels runs parallel to the recovery of sodium levels and renal function is not usually impaired.
We report the case of a 16-year-old female patient born in Mauritania, with a family history of acute intermittent
porphyria, who was admitted to hospital for abdominal pain and vomiting for the past several days associated to an impaired consciousness level and two episodes of generalized tonic-clonic seizures, after which she remained in a postictal state and required orotracheal intubation and mechanical ventilation. Laboratory test results include severe hyponatremia (Na 95 mM/L; normal, 135-145) associated to plasma (244 mOsm/L) and urinary hyposmolarity (222 mOsm/L), urinary frequency and data suggesting hypovolemia (central venous pressure of
4 mmHg). Isotonic saline infusion was therefore started. Rhabdomyolysis was detected 24 hours after admission. Maximum CPK levels of 35628 U/L were found at 48 hours, but no renal function impairment was noted. Patient clinical signs and history suggested an AIP attack, that was confirmed by measuring in a spot urine sample levels of deltaaminolevulinic acid of 39.7 mg/g (normal, 0-5), as well as values in 24-hour urine of 154.3 mg of porphobilinogen (normal, 0-2), 484 μg/24 h of coproporphyrin (normal, 0-60), and 1,471μg/24 h of uroporphyrin (normal, 0- 22). Once diagnosis was confirmed, treatment was started with intravenous
human hemin at 3 mg/kg/day for 4 days. The patient developed arterial hypertension that required administration of beta-blockers. Clinical course was satisfactory, with a progressive improvement in consciousness level. Mechanical ventilation was withdrawn 6 days after admission, and patient was discharged with a normal consciousness level and no symptoms. A genetic study to search for mutations and screen for heterozygous family carriers was requested.
AIP is the most common and severe of hepatic porphyrias.4 Disease transmission is autosomal dominant, and the gene encoding AIP is located in the long arm of chromosome 11. AIP causes deficiency of the enzyme uroporphyrinogen I synthetase, formerly called porphobilinogen synthetase (PBG), thereby blocking heme synthesis. The most typical clinical signs include nausea, vomiting, constipation, diarrhea, urinary retention,
tachycardia, hypertension, mental symptoms, and muscle pain and weakness. These attacks may be triggered by barbiturates, anticonvulsants, estrogens, oral contraceptives, alcohol, or low-calorie diets. Seizures may occur in 20% of cases, particularly in patients with hyponatremia.
The relationship between hyponatremia and rhabdomyolysis may apparently result from intracellular potassium efflux to compensate for the cell edema caused by decreased sodium levels, which would cause a decrease in transmembrane potential and hence in muscle metabolism.5 Other authors postulate that it is hyponatremia correction itself which causes changes in muscle cells ion concentrations and osmolarity resulting in incapacity to maintain homeostasis in cell volume regulation. This would cause membrane fragility
and muscle enzyme release into the bloodstream.6