[Acute intermittent porphyria and oral contraception. Case report]. / Ostra przerywana porfiria i doustna antykoncepcja opis przypadku.

BACKGROUND: Acute intermittent porphyria is the most common type of porphyria occurring in Poland. Its characteristic feature is periods of remissions and aggravations. Aggravation or an attack of the disease is caused by many endogenous and exogenous factors, among others by hormonal contraceptives. CASE REPORT: This article describes the case of an acute intermittent porphyria attack in a 28 years old female patient resulting from the use of a few, contraindicated drugs (metamizole, nospa, desogestrel in case of porphyria, urinary tract infection, as well as a spontaneous abortion two months earlier). The attack included abdominal pain, vomiting, reduction in muscle strength in limbs and it was complicated by seizures caused by hyponatraemia. High excess haem precursors in urine was observed. During hospitalization, the patient ceased to take harmful drugs and she was given haem arginate, glucose and symptomatic drugs, and she recovered completely. CONCLUSION: In the described case there were a few porphyrogenous factors whose action was observed, among which the most important was desogestrel. Due to this conclusion, a change in contraceptive therapy that would exclude hormonal contraception was suggested.

Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.

Acute intermittent porphyria (AIP), an autosomal dominant disorder of heme biosynthesis, is due to mutations in hydroxymethylbilane synthase (HMBS; or porphobilinogen deaminase, PBGD) gene. In this study, we analyzed 20 Polish patients affected by AIP and we were able to characterize seven novel mutations. A nonsense mutation (Y46X), two frameshift mutations (315delT and 552delT) and a 131bp deletion (nucleotides 992-1123) give rise to truncated proteins. A donor splice site mutation IVS12+2T>C predicts skipping of exon 12. A missense mutation (D61Y) was identified in two apparently unrelated patients with a clearly clinical indication of AIP. An inframe 3-bp deletion (278-280delTTG) results in the removal of V93 from the enzyme. In addition to the novel mutations, nine previously described HMBS gene mutations-R26H, G111R, IVS7+1G>A, R149X, R173Q, 730-731delCT, R225X, 982-983delCA and G335D-were identified in this cohort. Our results demonstrate that molecular analysis of the PBGD gene is a more reliable method comparing to enzymatic assay in the diagnosis of AIP. Although more than 170 different mutations are known to the HMBS gene so far, over 40% of all mutations identified among the Polish AIP patients of this study are novel mutations, indicating the heterogeneity of molecular defects causing AIP.