Awareness, early diagnosis, and care can save lives.

Rare kidney diseases are conditions that affect a small number of people individually, but together they impact millions worldwide, including many in Malaysia. They often begin in childhood or young adulthood, progress silently, and are frequently misdiagnosed or diagnosed late. Raising awareness is critical—because early recognition can change lives.

What makes a kidney disease “rare”?
A disease is considered rare when it affects only a small proportion of the population. Many rare kidney diseases are:

• Genetic or inherited
• Immune-mediated
• Systemic, affecting other organs as well as the kidneys

Despite being “rare,” they are an important cause of early-onset chronic kidney disease (CKD) and kidney failure.

Main types of rare kidney diseases

1. Genetic and inherited kidney diseases
These are caused by changes in genes passed through families. Examples include:

• Polycystic kidney disease – multiple cysts in the kidneys
• Alport syndrome – affects kidneys, hearing, and vision
• Tubulopathies – disorders of kidney salt and water handling

Genetic kidney diseases may run in families but can also occur without a known family history.

2. Rare glomerular diseases
These conditions affect the kidney’s filtering units (glomeruli). They often present with protein in the urine, blood in the urine, or swelling. Examples include:

• Focal segmental glomerulosclerosis (FSGS)
• Membranous nephropathy
• IgA nephropathy (in certain aggressive forms)
• Many are immune-related and may require specialised treatment.

3. Complement-mediated and thrombotic disorders
These are ultra-rare but severe conditions caused by abnormal immune or clotting pathways, such as:

• Atypical haemolytic uraemic syndrome (aHUS)
• C3 glomerulopathy

They often need advanced diagnostics and targeted therapies.

4. Metabolic and systemic rare diseases
Some rare conditions affect multiple organs, including the kidneys, such as:

• Fabry disease
• Amyloidosis

Early diagnosis can prevent irreversible organ damage.

Why awareness matters

• Symptoms are often non-specific (fatigue, swelling, urine changes)
• Delayed diagnosis can lead to preventable kidney failure
• New treatments, including precision and targeted therapies, are now available-but only if the disease is recognised early

Early Diagnosis and Testing

Early and accurate diagnosis is key. Common methods include:

• Urine tests – check for protein or blood
• Blood tests – assess kidney function
• Genetic testing – identify inherited kidney disorders
• Kidney biopsy – examines kidney tissue for damage

Detecting a rare kidney disease early can improve treatment outcomes and slow disease progression.

Key message
Rare kidney diseases may be uncommon, but timely diagnosis, specialist care, and patient awareness can dramatically improve outcomes.

Support

Rare Kidney Disease Subsidy Programme

The Rare Kidney Disease Subsidy Programme provides financial assistance to Malaysians who face barriers in obtaining a diagnosis for rare kidney diseases.

[Click here for eligibility criteria and application forms] 

Take Action

• Get screened: Early detection saves lives.
• Join awareness campaigns: Educate your community about rare kidney diseases.
• Support research: Your contribution helps fund life-saving studies.