Challenges in the successful management of a case of acute intermittent porphyria in India

被引:4
作者
Patell, Rushad [1 ]
Dosi, Rupal [2 ]
Joshi, Harsh [2 ]
Shah, Purav [3 ]
Tripathi, Rishi [4 ]
机构
[1] Cleveland Clin Fdn, 9500 Euclid Ave, Cleveland, OH 44195 USA
[2] Med Coll Baroda, Vadodara, India
[3] St Lukes Roosevelt Hosp, Mt Sinai Icahn Sch Med, New York, NY USA
[4] Krishna Inst Med Sci, Karad, India
关键词
Acute intermittent porphyria; human haematin; HEMATIN;
D O I
10.1177/0049475515610939
中图分类号
R1 [预防医学、卫生学];
学科分类号
1004 ; 120402 ;
摘要
Acute intermittent porphyria (AIP) is a rare metabolic disease involving a defect in haem biosynthesis resulting in the accumulation and excessive secretion of porphyrins and its precursors. Acute attacks present with episodes of severe abdominal pain, nausea, confusion and severe life-threatening seizures. A high index of suspicion is required for the initial diagnosis of AIP.
引用
收藏
页码:150 / 153
页数:4
相关论文
共 7 条
[1]   Recommendations for the diagnosis and treatment of the acute porphyrias [J].
Anderson, KE ;
Bloomer, JR ;
Bonkovsky, HL ;
Kushner, JP ;
Pierach, CA ;
Pimstone, NR ;
Desnick, RJ .
ANNALS OF INTERNAL MEDICINE, 2005, 142 (06) :439-450
[2]  
Gurses C, 2008, Br J Radiol, V81, pe135, DOI 10.1259/bjr/39757649
[3]   Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria [J].
Harper P. ;
Wahlin S. .
Current Treatment Options in Gastroenterology, 2007, 10 (6) :444-455
[4]   Acute intermittent porphyria with peripheral neuropathy: A follow-up study after hematin treatment [J].
Kuo, Hung-Chou ;
Lee, Ming-Jen ;
Chuang, Wen-Li ;
Huang, Chin-Chang .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2007, 260 (1-2) :231-235
[5]  
Pischik E, 2009, CELL MOL BIOL, V55, P72
[6]   Porphyrias [J].
Puy, Herve ;
Gouya, Laurent ;
Deybach, Jean-Charles .
LANCET, 2010, 375 (9718) :924-937
[7]   HEMATIN AND PORPHYRIA [J].
WATSON, CJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1975, 293 (12) :605-607