Abstract
Paroxysmal nocturnal haemoglobinuria is a non-malignant stem cell disorder due to acquired somatic mutations in cell surface anchored proteins CD55 and CD59. Both have a compliment inhibitory role and their deficiency leads to intravascular haemolysis. This paper reports a challenging case of a 25 years old male who presented with generalized weakness, exertional dyspnoea and episodic early morning haematuria. Recently, he started developing progressive abdominal distention and dull generalized abdominal pain. Investigations revealedhaemoglobin3.5g/dl with 10% reticulocytes, total bilirubin 54.5 mg/dl, LDH 3155 U/L, negative Coomb’s testand erythroid hyperplasia on bone marrow biopsy. Urine complete exam was significant forhaemoglobinuria without red blood cells. Doppler scan of abdomen showed portal vein thrombosis. Loss of expression of CD14, CD16, CD55 and CD59 on leukocytes and erythrocyteswas seen on PNH analysis, confirming paroxysmal nocturnal haemoglobinuria. He was managed with blood transfusions and was advised folic acid and bone marrow transplant
Dr. Munnam Sohail Jafar,, Munnam Sohail Jafa, Nasir Hameed, Ahmad Malik. (2017) HAEMOGLOBINURIA AND PORTAL VENOUS THROMBOSIS IN A YOUNG MALE, JOURNAL OF AYUB MEDICAL COLLEGE ABBOTTABAD, Volume 29, Issue 2.
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