Nephrogenetic Clinic

Hong Kong Children's Hospital

Genetics and Genomics Clinic

Nephrogenetic Clinic

Numerous studies have shown that gene mutations contribute to various kidney and urinary tract anomalies, which may run in families or occur in individuals. Some conditions can manifest at birth, while others may develop over a lifetime.

Identifying a genetic cause allows healthcare professionals to provide personalized treatment and follow-up for patients. With a genetic diagnosis, we can pinpoint the cause of rare diseases, enhance our understanding of pathophysiology, detect subtle manifestations earlier, guide monitoring for potential complications, and provide precise genetic counselling for family planning, prenatal diagnosis, and preimplantation genetic diagnosis.

Occasionally, individuals present with rare genetic findings that may influence the kidney and urinary tract system in unknown ways. A detailed clinical examination in our joint clinic will help determine if these findings account for the patient's symptoms. While some diseases may not have a clearly identifiable genetic cause, our understanding is continuously evolving.

Patients and families with suspected or confirmed inherited conditions affecting the kidney and urinary tract can be referred to our Nephrogenetic Clinic for comprehensive diagnostic assistance. We welcome referrals from paediatricians and physicians in both private and public sectors. Our clinic, operated by paediatricians from the Nephrology Team, clinical geneticists, genetic counsellors and nurses of the Hong Kong Children's Hospital, offers appropriate clinical evaluations, genetic testing, and counselling as required for children in need.

Specialist medical team includes:

• Paediatricians from the Nephrology Team
• Clinical Geneticists
• Genetic Counsellors
• Specialty Nurses

Nephrotic conditions with possible genetic causes include:

• Congenital anomalies of kidney and urinary tract (CAKUT)
• Cystic kidney disease
• Familial hematuria
• Alport syndrome and other hereditary nephropathies
• Congenital nephrotic syndrome
• Steroid resistant nephrotic syndrome
• Renal ciliopathies
• Haemolytic uraemic syndrome
• Or other known genetic nephrotic conditions

*This list is not exhaustive. If you have any nephrotic conditions with suspected genetic cause, please contact your doctor.

Seeking professional evaluation

Upon visiting our Nephrogenetic Clinic, our paediatricians will conduct a thorough clinical assessment, which is essential to determine what genetic tests are appropriate for the affected individual. Genetic assessments and genetic counselling are provided by a team of specialized healthcare professionals. Together, these professionals provide information and support for individuals and families affected by genetic conditions. Genetic counselling provides you with information about genetic conditions that may affect you or your child, as well as other family members.

Preparation for the appointment

1. It is recommended that both you and your partner (or legal guardian if applicable) accompany your child to the appointment if he or she is under 18
2. Gather your personal and family medical history
3. Bring along any medical records related to your concerns
4. Bring a list of questions and concerns
5. Bring personal identification document of the patient (e.g. HKID card, HK birth certificate or passport). If the patient is under 18, personal identification documents of the parents / guardians (e.g. HKID card or passport) are required

Nephrology Centre,
Department of Paediatrics and Adolescent Medicine and Department of Clinical Genetics
Hong Kong Children's Hospital

Address: Specialist Outpatient Clinic, 1/F Tower B, Hong Kong Children's Hospital, 1 Shing Cheong Road, Kowloon Bay, Kowloon, Hong Kong
Office Tel: 5741 3186

HKCH DCG and NEPH-GGJ6
AUG 2025