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Genetic Kidney Diseases

2026/03/30

Genetic kidney diseases (GKD) occur when changes in specific genes affect how the kidneys develop or function. These genetic changes can be inherited from a parent or may arise spontaneously after birth.

As our kidneys play many important roles in filtering waste, balancing fluids, and keeping the body healthy, changes in kidney genes can lead to a variety of kidney conditions. It is estimated that 10–30% of chronic kidney disease (CKD) cases are linked to genetic causes.

Types of Genetic Kidney Diseases

Genetic kidney diseases can affect different parts of the kidney. Some of the more common groups include:

Cystic Kidney Diseases: When the kidneys develop many fluid‑filled cysts.
Glomerular Diseases: When the kidney filters become “leaky,” affecting how well blood is cleaned.
Alport Spectrum Disorders: When the kidney membranes are thinner or more fragile than usual.
Tubulointerstitial Kidney Diseases: When the kidney tubules and surrounding tissues become scarred.
Metabolic Kidney Diseases: Conditions such as Cystinosis and Fabry disease, where the lack of certain enzymes leads to toxin build‑up inside the kidneys.
Genetic Tubulopathies – conditions where kidney tubules don’t function properly due to genetic changes, which can alter urine composition and increase kidney stone risk.

Our Services

Genetic Counselling

To help you understand:

Your condition
Testing options
What results may mean for you and your family

Genetic Testing Options

We offer a range of genomic tests, including:

Targeted gene panel sequencing
(analyses a selected group of disease‑specific genes)
Whole Exome Sequencing
(analyses around 22,000 protein‑coding genes)
Whole Genome Sequencing
(analyses your entire genetic blueprint)

Tests are recommended based on your specific situation and health needs.

How Genetic Kidney Diseases Are Diagnosed

A thorough evaluation may include:

Detailed medical history
Physical examination
Family history review
Blood and urine tests
Kidney imaging or scans
Kidney biopsy where appropriate
Genomic testing

Combining these findings helps doctors understand the cause of kidney problems and plan the best care.

Who Should Be Referred to Us?

Individuals may be at higher risk of GKD if they have:

A strong family history of kidney disease or kidney failure
Early‑onset kidney disease
Kidney disease involving other organs
Unexplained chronic kidney disease
A rapid decline in kidney function or poor response to treatment

Genomic testing is especially recommended for individuals with tubulopathies or kidney stones who have:

Persistent or unexplained electrolyte or acid‑base abnormalities
High uric acid levels (above 450 µmol/L), especially if gout occurs below age 30
Multiple or recurrent kidney stones
(more than 2 episodes in the last 3 years)
Kidney stones at a young age (below 30 years)
Kidney stones alongside urine abnormalities, such as:
o Excess urinary glucose not due to medication
o Elevated urinary cystine or cystine stones
o High urinary calcium
o Elevated blood or urinary oxalate
o High urinary phosphate with low blood phosphate
o Low urinary citrate
Medullary nephrocalcinosis (calcium deposits in the kidney)
Features outside the kidney, including:
o Hearing loss
o Bone abnormalities
o Eye conditions such as early cataracts, glaucoma, or retinal/corneal problems

How Genetic Testing Helps

Genomic testing can help you and your healthcare team:

Understand whether your kidney condition is genetic
Personalise your treatment plan to preserve kidney function
Make lifestyle and dietary adjustments to protect your kidneys
Avoid unnecessary medications, clinic visits, tests, or invasive procedures
Guide family members on whether they may also be at risk

Your doctor may also share support resources or connect you with relevant patient support groups.

Our Team

Adult Genetic Nephrologists

Dr Chan Gek Cher
Senior Consultant

Dr Da Yi
Associate Consultant

Paediatric Genetic Nephrologists

A/Prof Ng Kar Hui
Senior Consultant

Genetic Nephrologists

Adj A/Prof Perry Lau
Senior Consultant

Dr Sharon Teo
Consultant

Dr David Lu
Consultant

This multidisciplinary team provides comprehensive care for both adults and children with suspected or confirmed genetic kidney diseases.

Resources

For more resrouces, click here.

Location & Contact

Paediatric Genetic Kidney Diseases

Khoo Teck Puat – National University Children’s Medical Institute
National University Hospital

Opening Hours

Monday – Friday: 9.00am–5.30pm
Closed on Saturdays, Sundays & Public Holidays

Contact Us

Email: [email protected]