Complement activation: an atypical presentation of an atypical syndrome

BMJ Case Reports
Alfredo IardinoHector Alejandro Preti

Abstract

A 42-year-old Hispanic female and long-distance runner was seen for evaluation of fatigue. Her physical examination showed petechiae and ecchymoses in upper extremities, abdominal distension and bilateral ankle oedema. Laboratory workup revealed anaemia, thrombocytopenia, hypoalbuminemia and proteinuria of 1.4 g/24 hours. No schistocytes were found on peripheral blood smear. CT of her abdomen revealed diffuse small lymphadenopathy and hepatomegaly. Bone marrow biopsy demonstrated normal trilineage hematopoiesis with no hemophagocytosis. The patient was started on oral prednisone with no improvement and was subsequently admitted to the hospital for pulsed steroids, intravenous immunoglobulin and rituximab. Her proteinuria became nephrotic range, and a renal biopsy revealed features of thrombotic microangiopathy limited to the glomerular capillaries. ADAMTS13 was low which is >10% of normal, and a diagnosis of atypical haemolytic-uraemic syndrome (aHUS) was made. Eculizumab was started with prompt response. Whole exome sequencing demonstrated mutation in SPTA1, which has been associated with red blood cell membrane diseases but has not been described in patients with aHUS.

References

Aug 17, 2005·Journal of Thrombosis and Haemostasis : JTH·B LämmleL Alberio
Oct 13, 2006·American Journal of Hematology·Theresa L WernerGeorge M Rodgers
Oct 23, 2009·The New England Journal of Medicine·Marina Noris, Giuseppe Remuzzi
Jun 8, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·David Kavanagh, Tim Goodship
Mar 2, 2013·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Sudha SethyS Mahapatra
Jun 7, 2013·The New England Journal of Medicine·C M LegendreC Loirat
Apr 23, 2014·British Journal of Haematology·Guillaume A FavreFadi Fakhouri
May 7, 2014·Seminars in Thrombosis and Hemostasis·Santiago Rodríguez de CórdobaAgustín Tortajada
Apr 15, 2015·Pediatrics International : Official Journal of the Japan Pediatric Society·Masataka HisanoMotoshi Hattori
Aug 19, 2015·Journal of the American Society of Nephrology : JASN·Fengxiao BuRichard J H Smith

❮ Previous
Next ❯

Related Concepts

Related Feeds

Antibodies: Complement Activation

The complement system can be activated by antigen-associated antibody. In the classical pathway of complement activation, C1q, C4b, and C3b are all able to bind to the Fc portion of IgG or IgM. Find the latest research on antibodies and complement activation here.

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.

Related Papers

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Maria Helena VaisbichFernando Kok
Archivos de la Sociedad Española de Oftalmología
A Sampedro LópezJ J Barbón García
Mayo Clinic Proceedings
Ayalew Tefferi, Michelle A Elliott
Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Rajiv SinhaRobert Morrison Hurley
Jornal brasileiro de nefrologia : ʹorgão oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
Maria Helena VaisbichBenita Galassi Soares Schvartsman
© 2022 Meta ULC. All rights reserved