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    -  Chakraborty A
    -  Muranjan M
    -  Karande S
    -  Kharkar V
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CASE SERIES
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Porphyrias: Uncommon disorders masquerading as common childhood diseases


1 Genetic Clinic, Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, Maharashtra, India
2 Department of Dermatology, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, Maharashtra, India

Date of Submission31-Aug-2022
Date of Decision17-Jan-2023
Date of Acceptance18-Jan-2023
Date of Web Publication20-Apr-2023

Correspondence Address:
M Muranjan,
Genetic Clinic, Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, Maharashtra
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpgm.jpgm_698_22

PMID: 37082991


 :: Abstract 


Porphyrias are a rare group of inborn errors of metabolism due to defects in the heme biosynthetic pathway. The biochemical hallmark is the overproduction of porphyrin precursors and porphyrin species. Afflicted patients present with a myriad of symptoms causing a diagnostic odyssey. Symptoms often overlap with those of common diseases and may be overlooked unless there is heightened clinical suspicion. We are reporting clinical features and diagnostic challenges in four pediatric patients having variegate porphyria, congenital erythropoietic porphyria, acute intermittent porphyria, and erythropoietic protoporphyria (EPP), who presented with diverse multisystem manifestations. This case series illustrates a logical analysis of symptoms and judicious selection of investigations and the role of genotyping in successfully diagnosing porphyrias.


Keywords: Chronic liver disease, hypertension, hyponatremia, inborn errors of metabolism, photosensitivity, seizures



How to cite this URL:
Chakraborty A, Muranjan M, Karande S, Kharkar V. Porphyrias: Uncommon disorders masquerading as common childhood diseases. J Postgrad Med [Epub ahead of print] [cited 2023 May 30]. Available from: https://www.jpgmonline.com/preprintarticle.asp?id=374441


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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow