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Acute intermittent porphyria


, : Acute intermittent porphyria. Best Practice & Research. Clinical Gastroenterology 19(2): 235-249

Acute intermittent porphyria (AIP) is characterised by neurovisceral crises the most common clinical presentation of which is abdominal pain. It is an autosomal dominant condition with incomplete penetrance and is potentially life-threatening. The key point in management is to suspect and confirm the diagnosis as early as possible in order to treat the attack and to avoid inappropriate treatments which may exacerbate the crisis. In this chapter we briefly outline the haem biosynthetic pathway and how deficiencies in individual enzymes give rise to the different porphyrias. We then describe the clinical features and diagnosis of AIP, followed by a discussion of pathogenesis, highlighting advances in the molecular biology of AIP and introducing the debate as to whether neurovisceral crises might result from porphyrin precursor neurotoxicity or from haem deficiency. Finally we discuss management, including family screening, avoidance of triggering factors, analgesia, maintenance of a high calorie intake, and administration of haem derivatives.

US$19.90

PMID: 15833690

DOI: 10.1016/j.bpg.2004.10.006


Other references

Jacobson, P.F.; Walden, P.R., 2014: Lexical diversity and omission errors as predictors of language ability in the narratives of sequential Spanish-English bilinguals: a cross-language comparison. This study explored the utility of language sample analysis for evaluating language ability in school-age Spanish–English sequential bilingual children. Specifically, the relative potential of lexical diversity and word/morpheme omission as...

Wilkins, G.L., 1951: How to begin the study of sea-shells. Country-Side N S: 162: 57-64

Isoda, S.; Yamaguchi, H.; Satoh, Y.; Hirata, M., 1980: Medicinal chemical studies on anti plasmin drugs 7. oxa analogs of 4 aminomethyl cyclo hexanecarboxylic acid. The 2 isomers of 5-aminomethyltetrahydro-2H-pyran-2-carboxylic acid and those of 5-aminomethyl-1,4-dioxane-2-carboxylic acid were synthesized from 2-ethoxycarbonyl-3,4-dihydro-2H-pyran-5-carboxylic acid chloride and dimethyl 1,4-dioxane-2,5-dicarb...

Betteridge, D.J., 2002: Diabetes: a new challenge in the prevention of coronary heart disease. Cardiologia 44 Suppl 1(Pt 1): 407-407

Zhu, S.; Fu, W.; Zhang, L.; Fu, K.; Hu, J.; Jia, W.; Liu, G., 2017: LINC00473 antagonizes the tumour suppressor miR-195 to mediate the pathogenesis of Wilms tumour via IKKα. Although dramatic improvements of overall survival has achieved in patients with favourable histology Wilms tumour, disease recurrence is still the main cause of cancer-related death in childhood. Long non-coding RNAs (lncRNAs) as oncogenes or tum...

Winter, A.G., 1947: A method for the quantitative estimation of the growth of parasitic or saprophytic fungi in the soil.. The growth of the saprophytic phase of Ophiobolus graminis has been investigated in natural and partially sterilized sand, loamy garden soil and compost, with and without the addition of various concentrations of glucose, peptone, or biomalt. The...

Soth, D.G.; Tompkins, H., 1988: Productivity and quality through systems marketing and education. Hospital Materiel Management Quarterly 9(4): 30-34

Bingle, L.; Barnes, F.A.; Lunn, H.; Musa, M.; Webster, S.; Douglas, C.W.Ian.; Cross, S.S.; High, A.S.; Bingle, C.D., 2009: Characterisation and expression of SPLUNC2, the human orthologue of rodent parotid secretory protein. We recently described the Palate Lung Nasal Clone (PLUNC) family of proteins as an extended group of proteins expressed in the upper airways, nose and mouth. Little is known about these proteins, but they are secreted into the airway and nasal lin...

Bellinetto A.; Lessem J.N., 1983: Digitalis therapy in geriatric patients assessment of therapeutic efficiency. The effect of digitalis therapy was investigated in elderly patients who were on digoxin for more than 2 yr. This study involved 93 patients with an average age of 84 yr who were on digoxin for 2 or more yr. All patients were hospitalized during t...

Gonazalez, L.M.; Valdivie, M.; Lon Wo, E.; Elias, A.; Rodriguez, J.; Gutierrez, O., 1993: A note on the use of industrial saccharina in turkey fattening. Two experiments under production conditions were carried out for evaluating the inclusion of industrial Saccharina in diets for fattening G7 turkeys. In the first one, 2260 young turkeys were used and Saccharina was included at 15% in the starter...