Sneha Kenjale* and Keta Vagha
Atypical haemolytic uremic syndrome is a rare type of thrombotic microangiopathy and one of the common causes of acute kidney injury or acute renal failure in paediatric age group apart from renal hypoperfusion. It consist of 5% classical haemolytic uremic syndrome cases and is differentiated from classical HUS by absence of typical history of preceding diarrhoea due to shiga toxin or verotoxin of enteropathogenic E.coli (O157;H17) and absence of prodromal period. Majority of them have an evidence of intravascular haemolysis manifesting as anaemia, thrombocytopenia and features suggestive of declining renal function. Approximately, 50% cases present with this triad. However, Disease has broad spectrum of clinical features majorly involving renal system and others being central nervous system, ophthalmic lesions, pulmonary system and gastrointestinal system. Most frequent extra renal manifestations are seizures, hypertension, pulmonary haemorrhage and ophthalmic involvement in the form of retinal haemorrhages, papilledema, scotoma and sometimes loss of vision. Its pathophysiology lies in abnormality of alternate complement pathway due to gene mutations and is triggered by minor infection that sometime goes unnoticed. Half of the cases achieve remission whereas the other half progress to end stage renal disease and hence this disease has variable prognosis. We report a case of 15 year old boy of India, diagnosed with atypical haemolytic uremic syndrome along with acute glomerulonephritis. Patient presented with anaemia, generalised anasarca, papilledema, hypertensive crisis, episode of seizures and significant MRI brain findings. This case puts light on variety of presentation this disease can have and shows multisystem involvement.
