An Extremely Rare Case of Congenital Erythropoietic Porphyria Diagnosed In Adulthood with Unusual Life Threatening Complications
Journal Title: Journal of Medical Science And clinical Research - Year 2017, Vol 5, Issue 5
Abstract
Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of heme synthesis that results from the markedly deficient activity of uroporphyrinogen III synthase (UROS). We describe a 44-yearold male with history of passing red urine since infancy, progressive blistering and scarring of the skin and severe hemolytic anemia. After years of skin damage, his face is mutilated; hands are deformed, he has scleromalacia and prominent areas of hypertrichosis and skin darkening. Patient presented to us in shock with severe anaemia and derangement of haepatorenal and coagulation profile. Uroporphyrin 1 and coproporphyin 1 levels were markedly raised in urine. Patient was stabilized with intravenous fluids, hematinics and blood transfusion. Inspite of conservative treatment and photoprotective measures patient’s lesions are progressing. Bone marrow transplantation and/or gene therapy are proposed as the next steps in his treatment.
Authors and Affiliations
Dr Sandhya Chauhan
Keywords
Related Articles
- EP ID EP285178
- DOI -
- Views 35
- Downloads 0
Pediatric Tuberculous Meningitis-Clinicoepidemiological, Mortality and Morbidity profile in tertiary care institute in northern India
Introduction: Tuberculous meningitis (TBM) is a serious public health problem in developing countries and is associated with high mortality and morbidity. A delay in diagnosis and treatment can lead to fatal complication...
Marma Therapy in Katigraha W.S.R. Low Back Pain
Relevance of Low back Pain Low back pain is a very common health problem worldwide and a major cause of disability - affecting performance at work and general wellbeing. The 2010 Global Burden of Disease Study estimated...
Correlation of Malnutrition with Birthweight and Maternal Education
Children of below five years of age are at risk of malnutrition due to various determinants apart from calorie intake. Their susceptibility to malnutrition is more severe and compounded due to factors like low birth weig...
Raised serum CEA and CA 19-9 in Lung Cancer in tertiary care hospital in Eastern India
Background: Lung cancer is the leading cause of cancer death worldwide. Unfortunately, most lung cancers are already unresectable and metastatic at initial diagnosis. Measurement of tumor markers is a noninvasive means t...
Study showing the assessment with correlation of 25-hydroxy Vitamin D and HbA1c in type 2 Diabetes Mellitus
Background: Vitamin D deficiency reportedly is associated with type 2 diabetes (T2DM). We aim to examine whether 25-hydroxyvitamin D (25OHD) has clinically significant influence on hemoglobin glycation (HbA1c) in T2DM su...