Case Report
2015 April
Volume : 3 Issue : 2


Acute intermittent porphyria

Arvind Kumar D, Srinivas V, Sravan Kumar S

Pdf Page Numbers :- 75-78

Arvind Kumar D1, Srinivas V1,* and Sravan Kumar S1

 

1Department of Internal Medicine, Krishna Institute of Medical Sciences, Minister Road, Secunderabad-500003, Telangana, India.

 

*Corresponding author: Dr. Srinivas V, Department of Internal Medicine, Krishna Institute of Medical Sciences, Minister Road, Secunderabad-500003, Telangana, India.

 

Received 5 February 2015; Revised 18 March 2015; Accepted 25 March 2015; Published 31 March 2015

 

Citation: Arvind Kumar D, Srinivas V, Sravan Kumar S. Acute intermittent porphyria. J Med Sci Res. 2015; 3(2):75-78. DOI: http://dx.doi.org/10.17727/JMSR.2015/3-014  

 

Copyright: © 2015 Arvind Kumar D, et al. Published by KIMS Foundation and Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 

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Abstract

 17-year-old female, came with complaints of abdominal pain, vomitings, hypertension. Three days before admission she developed severe abdominal pain, backache and generalised body pains with extreme weakness. These symptoms worsened over 3 days, accompanied by nausea, vomiting, and emotional instability [1]. Her medical history is notable for 6 similar attacks with abdominal pain and vomiting. She took no medications. On admission she was lethargic but oriented. On day 4 of hospital stay patient developed generalised tonic clonic seizure, hyponatremia, fall in haemoglobin, and during this episode there was pinkish discoloration of urine. With suspicion of porphyria, urine was sent for porphobilins estimation, which was positive. 24 hour urine for porphoblilinogen, was elevated and there were decreased levels of PBG-deaminase activity. Patient was treated with high carbohydrate intake and correction of electrolyte disturbances. Haematin and heme arginate were not used, due to the difficulty to acquire the medication.       

 

Keywords: Acute intermittent porphyria; autosomal dominant metabolic disorder; porphobilinogen deaminase enzyme

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