The impact of rare disease aHUS on immunity and kidney health
Jakarta – Dr Dina Nilasari, Ph.D, Sp.PD, K-GH, a specialist in internal medicine and renal-hypertension consultant from Hasanuddin University, has explained the impact of the rare disease atypical haemolytic uremic syndrome (aHUS) on immunity and kidney health.
“Symptoms of rare diseases are often non-specific and easily missed. This condition can develop very rapidly and lead to kidney failure if not promptly recognised and treated,” Dina said at a press conference in Jakarta on Friday.
Dina explained that the general challenge with rare diseases lies in low awareness and diagnostic complexity. In the case of aHUS, the simultaneous appearance of low platelets, haemolytic anaemia, and kidney dysfunction should immediately raise suspicion.
aHUS can occur in all age groups, from children to adults. The disease falls within the group of thrombotic microangiopathies (TMA), a condition in which small blood vessels are damaged due to uncontrolled activation of the complement system, part of the immune system.
If not treated quickly, the condition can progress to permanent kidney failure, need for dialysis, and risk of death.
In aHUS cases, approximately 40 per cent of patients are diagnosed in childhood, with some cases showing disease manifestations from a very early age. Approximately 22 per cent of patients experience manifestations of thrombotic microangiopathy before age six months, and up to 70 per cent experience their first episode before age two years.
Dina revealed that to date there is no single examination that directly confirms an aHUS diagnosis. Diagnosis is established through a process of ruling out various other diseases with similar symptoms within the TMA group.
Dr Hayatun Nufus, Sp.PD, K-HOM, FINASIM, a specialist in internal medicine and medical haemato-oncology consultant, added that haematological parameters play an important role in raising clinical awareness.
Besides kidney dysfunction, blood abnormalities are important indicators. Findings such as thrombocytopenia and schistocytes (fragments of red blood cells) in peripheral blood smear require medical attention.
Hayatun continued that without proper treatment, aHUS patients risk long-term complications including need for routine dialysis or kidney transplantation, as there is no specific preventive measure, making early detection the most critical factor in patient outcomes.
Beyond aHUS, she mentioned another rare disease related to blood disorders: paroxysmal nocturnal haemoglobinuria (PNH).
PNH is a rare blood disease that occurs due to mutation in blood-forming cells.
This mutation causes blood cells to lose protective protein on their surface, making them vulnerable to destruction by the immune system. As a result, patients experience continuous destruction of red blood cells and in many cases require repeated blood transfusions to replace damaged blood cells.
“For PNH itself, diagnosis can currently be carried out through flow cytometry testing, and this test is already available in Indonesia,” she said.