Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report. 2013

Anna R R Dos Santos, and Rafaela R De Albuquerque, and Maria J R Doriqui, and Graciomar C Costa, and Ana Paula S A Dos Santos
Departamento de Ciências Fisiológicas, Universidade Federal do Maranhão, Avenida dos Portugueses, 1966, Bacanga, 65085-580 São Luís, MA, Brasil.

Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen. This disease shows nonspecific signs and symptoms that can be confused with other diseases, thereby making the diagnosis difficult. We report a case of acute intermittent porphyria, reviewing clinical and laboratory aspects, highlighting the hematological and biochemical parameters during and after the crisis. A female patient, aged 28 years, suffered two crises, both presenting gastrointestinal disorders. The second presented neuropsychiatric symptoms. The analysis of hematological and biochemical parameters during the second crisis showed anemia, leukocytosis, hyponatremia, mild hypokalemia, uremia and elevated C-reactive protein. The initial treatment included glucose infusion, a diet rich in carbohydrates and interruption of porphyrinogenic drugs. Subsequently, treatment was maintained with oral contraceptive use. According to the observed data, signs and symptoms of gastrointestinal, neurological and psychiatric disorders, associated with laboratory results presented in this paper can be applied to screen acute porphyria, contributing to early diagnosis.

UI MeSH Term Description Entries
D007008 Hypokalemia Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed) Hypopotassemia,Hypokalemias,Hypopotassemias
D007010 Hyponatremia Deficiency of sodium in the blood; salt depletion. (Dorland, 27th ed) Hyponatremias
D002097 C-Reactive Protein A plasma protein that circulates in increased amounts during inflammation and after tissue damage. C-Reactive Protein measured by more sensitive methods often for coronary heart disease risk assessment is referred to as High Sensitivity C-Reactive Protein (hs-CRP). High Sensitivity C-Reactive Protein,hs-CRP,hsCRP,C Reactive Protein,High Sensitivity C Reactive Protein
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D014511 Uremia A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms. Uremias
D017118 Porphyria, Acute Intermittent An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine. Hydroxymethylbilane Synthase Deficiency,Uroporphyrinogen Synthase Deficiency,Acute Porphyria,PBGD Deficiency,Porphobilinogen Deaminase Deficiency,Porphyria, Swedish Type,UPS Deficiency,Acute Intermittent Porphyria,Acute Intermittent Porphyrias,Acute Porphyrias,Deaminase Deficiencies, Porphobilinogen,Deaminase Deficiency, Porphobilinogen,Deficiencies, Hydroxymethylbilane Synthase,Deficiencies, PBGD,Deficiencies, Porphobilinogen Deaminase,Deficiencies, UPS,Deficiencies, Uroporphyrinogen Synthase,Deficiency, Hydroxymethylbilane Synthase,Deficiency, PBGD,Deficiency, Porphobilinogen Deaminase,Deficiency, UPS,Deficiency, Uroporphyrinogen Synthase,Hydroxymethylbilane Synthase Deficiencies,Intermittent Porphyria, Acute,Intermittent Porphyrias, Acute,PBGD Deficiencies,Porphobilinogen Deaminase Deficiencies,Porphyria, Acute,Porphyrias, Acute,Porphyrias, Acute Intermittent,Porphyrias, Swedish Type,Swedish Type Porphyria,Swedish Type Porphyrias,Synthase Deficiencies, Hydroxymethylbilane,Synthase Deficiencies, Uroporphyrinogen,Synthase Deficiency, Hydroxymethylbilane,Synthase Deficiency, Uroporphyrinogen,Type Porphyria, Swedish,Type Porphyrias, Swedish,UPS Deficiencies,Uroporphyrinogen Synthase Deficiencies

Related Publications

Anna R R Dos Santos, and Rafaela R De Albuquerque, and Maria J R Doriqui, and Graciomar C Costa, and Ana Paula S A Dos Santos
January 1998, Ryoikibetsu shokogun shirizu,
Anna R R Dos Santos, and Rafaela R De Albuquerque, and Maria J R Doriqui, and Graciomar C Costa, and Ana Paula S A Dos Santos
July 1988, Annals of the Academy of Medicine, Singapore,
Anna R R Dos Santos, and Rafaela R De Albuquerque, and Maria J R Doriqui, and Graciomar C Costa, and Ana Paula S A Dos Santos
January 1980, The International journal of biochemistry,
Anna R R Dos Santos, and Rafaela R De Albuquerque, and Maria J R Doriqui, and Graciomar C Costa, and Ana Paula S A Dos Santos
July 2006, Indian journal of psychiatry,
Anna R R Dos Santos, and Rafaela R De Albuquerque, and Maria J R Doriqui, and Graciomar C Costa, and Ana Paula S A Dos Santos
December 2009, Journal of vector borne diseases,
Anna R R Dos Santos, and Rafaela R De Albuquerque, and Maria J R Doriqui, and Graciomar C Costa, and Ana Paula S A Dos Santos
January 1977, Medicinski pregled,
Anna R R Dos Santos, and Rafaela R De Albuquerque, and Maria J R Doriqui, and Graciomar C Costa, and Ana Paula S A Dos Santos
March 1978, Singapore medical journal,
Anna R R Dos Santos, and Rafaela R De Albuquerque, and Maria J R Doriqui, and Graciomar C Costa, and Ana Paula S A Dos Santos
March 2020, Biomedica : revista del Instituto Nacional de Salud,
Anna R R Dos Santos, and Rafaela R De Albuquerque, and Maria J R Doriqui, and Graciomar C Costa, and Ana Paula S A Dos Santos
November 1981, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde,
Anna R R Dos Santos, and Rafaela R De Albuquerque, and Maria J R Doriqui, and Graciomar C Costa, and Ana Paula S A Dos Santos
November 1973, East African medical journal,
Copied contents to your clipboard!