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acute&#160; intermittent <br></br>porphyria&#44; who was admitted to hospital for abdominal pain and vomiting for the past several days associated to an impaired&#160; consciousness&#160; level&#160; and&#160; two&#160; episodes of generalized tonic-clonic seizures&#44; after which&#160; she&#160; remained&#160; in&#160; a&#160; postictal state and required orotracheal intubation and mechanical&#160; ventilation&#46;&#160; Laboratory test results include severe hyponatremia &#40;Na&#160; 95 mM&#47;L&#59;&#160; normal&#44;&#160; 135-145&#41;&#160; associated to plasma &#40;244 mOsm&#47;L&#41; and urinary hyposmolarity &#40;222 mOsm&#47;L&#41;&#44; urinary&#160; frequency&#160; and&#160; data&#160; suggesting hypovolemia &#40;central venous pressure of <br></br>4 mmHg&#41;&#46;&#160; Isotonic&#160; saline&#160; infusion was therefore&#160; started&#46;&#160; Rhabdomyolysis&#160; was detected 24 hours after admission&#46; Maximum&#160; CPK&#160; levels&#160; of&#160; 35628&#160; U&#47;L were found at 48 hours&#44; but no renal function impairment&#160; was&#160; noted&#46;&#160; Patient&#160; clinical signs&#160; and&#160; history&#160; suggested&#160; an AIP attack&#44; that was confirmed by measuring in a spot urine sample&#160; levels of deltaaminolevulinic acid of 39&#46;7 mg&#47;g &#40;normal&#44; 0-5&#41;&#44; as well as values in 24-hour urine of 154&#46;3 mg of porphobilinogen &#40;normal&#44;&#160; 0-2&#41;&#44;&#160; 484&#160; &#956;g&#47;24&#160; h&#160; of&#160; coproporphyrin&#160; &#40;normal&#44;&#160; 0-60&#41;&#44;&#160; and&#160; 1&#44;471&#956;g&#47;24&#160; h&#160; of&#160; uroporphyrin&#160; &#40;normal&#44;&#160; 0- 22&#41;&#46;&#160; Once&#160; diagnosis&#160; was&#160; confirmed&#44; treatment was started with intravenous <br></br>human&#160; hemin&#160; at&#160; 3&#160; mg&#47;kg&#47;day&#160; for&#160; 4 days&#46;&#160; The&#160; patient&#160; developed&#160; arterial hypertension&#160; that required administration&#160; of&#160; beta-blockers&#46;&#160; Clinical&#160; course was&#160; satisfactory&#44;&#160; with&#160; a&#160; progressive improvement&#160; in&#160; consciousness&#160; level&#46; Mechanical ventilation was withdrawn 6&#160; days&#160; after&#160; admission&#44;&#160; and&#160; patient was&#160; discharged&#160; with&#160; a&#160; normal&#160; consciousness&#160; level&#160; and&#160; no&#160; symptoms&#46; A genetic&#160; study&#160; to&#160; search&#160; for mutations and screen for heterozygous family carriers was requested&#46; <br></br><br></br>AIP is&#160; the most&#160; common&#160; and&#160; severe of hepatic porphyrias&#46;4 Disease transmission&#160; is&#160; autosomal&#160; dominant&#44; and&#160; the gene encoding AIP is located in the long arm of chromosome 11&#46; AIP causes deficiency of the enzyme uroporphyrinogen I synthetase&#44; formerly called porphobilinogen&#160; synthetase&#160; &#40;PBG&#41;&#44;&#160; thereby&#160; blocking&#160; heme&#160; synthesis&#46;&#160; The most&#160; typical clinical&#160; signs&#160; include nausea&#44; vomiting&#44; constipation&#44; diarrhea&#44; urinary retention&#44; <br></br>tachycardia&#44; hypertension&#44; mental symptoms&#44;&#160; and&#160; muscle&#160; pain&#160; and&#160; weakness&#46; These attacks may be triggered by barbiturates&#44;&#160; anticonvulsants&#44;&#160; estrogens&#44;&#160; oral contraceptives&#44;&#160; alcohol&#44;&#160; or&#160; low-calorie diets&#46;&#160; Seizures&#160; may&#160; occur&#160; in&#160; 20&#37;&#160; of cases&#44; particularly in patients with hyponatremia&#46; <br></br><br></br>The relationship between hyponatremia&#160; and&#160; rhabdomyolysis&#160; may&#160; apparently result&#160; from intracellular potassium efflux&#160; to&#160; compensate&#160; for&#160; the&#160; cell edema caused by decreased sodium levels&#44; which would&#160; cause&#160; a decrease&#160; in transmembrane&#160; potential&#160; and&#160; hence&#160; in muscle metabolism&#46;5 Other authors postulate that it is hyponatremia correction itself which&#160; causes&#160; changes&#160; in muscle cells ion concentrations and osmolarity resulting&#160; in&#160; incapacity&#160; to maintain&#160; homeostasis&#160; in&#160; cell&#160; volume&#160; regulation&#46; This&#160; would&#160; cause&#160; membrane&#160; fragility <br></br>and&#160; muscle&#160; enzyme&#160; release&#160; into&#160; the bloodstream&#46;6 "
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Rhabdomyolysis after correction of severe hyponatremia due to an attack of acute intermittent porphyria
Rabdomiolisis tras la corrección de hiponatremia severa en una crisis de porfiria aguda intermitente
Mélida García-Martula, Luciano Santana-Cabreraa, Zenaida Santos-Moyanoa, Manuel Sánchez-Palaciosa
a Servicio de Medicina Intensiva, Hospital Universitario Insular de Gran Canaria, Gran Canaria, Islas Canarias, España,
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    "textoCompleto" => "To the editor&#58; A vascular mechanism responsible for renal damage during attacks&#160; of&#160; acute&#160; intermittent&#160; porphyria <br></br>&#40;AIP&#41;&#44; due to sustained&#160; vasospasm&#44; appears&#160; to&#160; exist&#46;1 Hyponatremia&#160; is&#160; a common complication in this disease&#44; that&#160; is&#160; usually&#160; related&#160; to&#160; a&#160; syndrome of&#160; inappropriate&#160; secretion of antidiuretic hormone &#40;SIADH&#41;&#46;2&#44;3 Rhabdomyolysis may&#160; be&#160; a&#160; frequent&#160; complication&#160; during&#160; hyponatremia&#160; correction in which elevation of creatine phosphokinase&#160; &#40;CPK&#41;&#160; levels&#160; runs&#160; parallel to&#160; the&#160; recovery of&#160; sodium&#160; levels&#160; and renal&#160; function&#160; is&#160; not&#160; usually&#160; impaired&#46; <br></br><br></br>We report the case of a 16-year-old female patient born&#160; in Mauritania&#44; with a family&#160; history&#160; of&#160; acute&#160; intermittent <br></br>porphyria&#44; who was admitted to hospital for abdominal pain and vomiting for the past several days associated to an impaired&#160; consciousness&#160; level&#160; and&#160; two&#160; episodes of generalized tonic-clonic seizures&#44; after which&#160; she&#160; remained&#160; in&#160; a&#160; postictal state and required orotracheal intubation and mechanical&#160; ventilation&#46;&#160; Laboratory test results include severe hyponatremia &#40;Na&#160; 95 mM&#47;L&#59;&#160; normal&#44;&#160; 135-145&#41;&#160; associated to plasma &#40;244 mOsm&#47;L&#41; and urinary hyposmolarity &#40;222 mOsm&#47;L&#41;&#44; urinary&#160; frequency&#160; and&#160; data&#160; suggesting hypovolemia &#40;central venous pressure of <br></br>4 mmHg&#41;&#46;&#160; Isotonic&#160; saline&#160; infusion was therefore&#160; started&#46;&#160; Rhabdomyolysis&#160; was detected 24 hours after admission&#46; Maximum&#160; CPK&#160; levels&#160; of&#160; 35628&#160; U&#47;L were found at 48 hours&#44; but no renal function impairment&#160; was&#160; noted&#46;&#160; Patient&#160; clinical signs&#160; and&#160; history&#160; suggested&#160; an AIP attack&#44; that was confirmed by measuring in a spot urine sample&#160; levels of deltaaminolevulinic acid of 39&#46;7 mg&#47;g &#40;normal&#44; 0-5&#41;&#44; as well as values in 24-hour urine of 154&#46;3 mg of porphobilinogen &#40;normal&#44;&#160; 0-2&#41;&#44;&#160; 484&#160; &#956;g&#47;24&#160; h&#160; of&#160; coproporphyrin&#160; &#40;normal&#44;&#160; 0-60&#41;&#44;&#160; and&#160; 1&#44;471&#956;g&#47;24&#160; h&#160; of&#160; uroporphyrin&#160; &#40;normal&#44;&#160; 0- 22&#41;&#46;&#160; Once&#160; diagnosis&#160; was&#160; confirmed&#44; treatment was started with intravenous <br></br>human&#160; hemin&#160; at&#160; 3&#160; mg&#47;kg&#47;day&#160; for&#160; 4 days&#46;&#160; The&#160; patient&#160; developed&#160; arterial hypertension&#160; that required administration&#160; of&#160; beta-blockers&#46;&#160; Clinical&#160; course was&#160; satisfactory&#44;&#160; with&#160; a&#160; progressive improvement&#160; in&#160; consciousness&#160; level&#46; Mechanical ventilation was withdrawn 6&#160; days&#160; after&#160; admission&#44;&#160; and&#160; patient was&#160; discharged&#160; with&#160; a&#160; normal&#160; consciousness&#160; level&#160; and&#160; no&#160; symptoms&#46; A genetic&#160; study&#160; to&#160; search&#160; for mutations and screen for heterozygous family carriers was requested&#46; <br></br><br></br>AIP is&#160; the most&#160; common&#160; and&#160; severe of hepatic porphyrias&#46;4 Disease transmission&#160; is&#160; autosomal&#160; dominant&#44; and&#160; the gene encoding AIP is located in the long arm of chromosome 11&#46; AIP causes deficiency of the enzyme uroporphyrinogen I synthetase&#44; formerly called porphobilinogen&#160; synthetase&#160; &#40;PBG&#41;&#44;&#160; thereby&#160; blocking&#160; heme&#160; synthesis&#46;&#160; The most&#160; typical clinical&#160; signs&#160; include nausea&#44; vomiting&#44; constipation&#44; diarrhea&#44; urinary retention&#44; <br></br>tachycardia&#44; hypertension&#44; mental symptoms&#44;&#160; and&#160; muscle&#160; pain&#160; and&#160; weakness&#46; These attacks may be triggered by barbiturates&#44;&#160; anticonvulsants&#44;&#160; estrogens&#44;&#160; oral contraceptives&#44;&#160; alcohol&#44;&#160; or&#160; low-calorie diets&#46;&#160; Seizures&#160; may&#160; occur&#160; in&#160; 20&#37;&#160; of cases&#44; particularly in patients with hyponatremia&#46; <br></br><br></br>The relationship between hyponatremia&#160; and&#160; rhabdomyolysis&#160; may&#160; apparently result&#160; from intracellular potassium efflux&#160; to&#160; compensate&#160; for&#160; the&#160; cell edema caused by decreased sodium levels&#44; which would&#160; cause&#160; a decrease&#160; in transmembrane&#160; potential&#160; and&#160; hence&#160; in muscle metabolism&#46;5 Other authors postulate that it is hyponatremia correction itself which&#160; causes&#160; changes&#160; in muscle cells ion concentrations and osmolarity resulting&#160; in&#160; incapacity&#160; to maintain&#160; homeostasis&#160; in&#160; cell&#160; volume&#160; regulation&#46; This&#160; would&#160; cause&#160; membrane&#160; fragility <br></br>and&#160; muscle&#160; enzyme&#160; release&#160; into&#160; the bloodstream&#46;6 "
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        "resumen" => "Parece que existe un mecanismo vascular responsable del da&#241;o renal durante las crisis de porfiria aguda intermitente &#40;PAI&#41;&#44; debido al vasoespasmo mantenido1&#46; La hiponatremia es una complicaci&#243;n frecuente en esta enfermedad&#44; que suele estar en relaci&#243;n con un S&#237;ndrome de Secreci&#243;n Inadecuada de Hormona Antidur&#233;tica &#40;SIADH&#41;2&#44;3&#46; La rabdomiolisis puede ser una complicaci&#243;n frecuente durante la correcci&#243;n de la hiponatremia y donde la elevaci&#243;n de la Creatin Fosfo Kinasa &#40;CPK&#41; va paralela a la recuperaci&#243;n de los valores de natremia y que&#44; habitualmente&#44; no cursa con afectaci&#243;n de la funci&#243;n renal&#46; "
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Article information
ISSN: 20132514
Original language: English
DOI:
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Idiomas
Nefrología (English Edition)