Rare Kidney Disease: It Might Be In Your DNA!

Rare diseases are conditions that affect a small percentage of the population. In Europe, a disease is considered rare if it affects no more than five people per 10,000. It is estimated that approximately 30 million people have rare diseases in 48 countries in Europe.

There are more than 6,000 unique rare diseases, and more than 400 of these affect the kidneys. While many forms of rare kidney disease (RKD) are caused by genetic conditions many other causes are also important. In Ireland, more than a third of the population with kidney disease have a family member affected as well, suggesting a genetic cause. This is why family history is so important when doctors are trying to understand the cause of kidney problems. RKDs include Polycystic Kidney Disease (PKD), Autosomal Dominant Tubular Interstitial Kidney Disease (ADTKD), IgA Nephropathy and Alport’s Syndrome. Many of these can be under diagnosed because early symptoms can be very mild, vague or there may be no apparent symptoms.

RECOGNISING THE SIGNS

It might start with simple tiredness, protein and blood in the urine, swollen ankles, high blood pressure, formation of kidney stones, recurrent urinary tract infection or worsening kidney function. Some inherited conditions are suggested by a strong family history of hearing loss, eye problems, gout, or kidney disease at a young age. Your healthcare team may suspect a rare kidney disease when kidney problems seem unusual, started early, affect several relatives, or do not fit a common pattern. In some families, the first sign is kidney failure in one relative, raising concerns that others may be at risk too. Diagnosis usually begins with a detailed medical history, family history, blood and urine tests, and kidney imaging such as ultrasound or CT scan of the kidneys. When inherited disease is suspected, genetic testing is often the most useful next step because it can confirm the cause of the kidney disease and guide family screening.

ANSWERS THROUGH RESEARCH

Established in 2014 by Beaumont Hospital and the Royal College of Surgeons in Ireland (RCSI), the Renal Genetic Clinic grew out of the Irish Kidney Gene Project, led by Professor Peter Conlon. Its purpose is to understand the genes causing kidney diseases in Ireland. The clinic runs a national referral programme for people with suspected genetic kidney disease and has reviewed more than 1,800 patients since its establishment. As a result of advances in research, in 2021 the research team used specialised genetic testing to analyse DNA and look for changes that might be causing kidney disease. The study was a major success, identifying a genetic diagnosis for about half of the patients involved.

EUROPEAN COOPERATION

This important work in Ireland is part of a much bigger team effort across Europe. The European Rare Kidney Disease Reference Network (ERKNet) brings together specialist centres across Europe to improve diagnosis, treatment, and long-term care for people with rare kidney diseases. This European Union (EU) programme has received funding from the EU’s Health Programme. ERKNet includes 24 EU countries, 72 centres, and more than 70,000 patients. ERKNet is important because it helps doctors across Europe share expertise, facilitate the discussion of complex cases, develop new guidelines, and support clinical research to improve diagnosis and treatment of RKDs. The network also connects patient communities with specialist teams through virtual consultation services and patient representative groups. The European Rare Kidney Disease Registry (ERKReg) collects anonymised patient data so that specialists can learn more about these diseases, track outcomes, and provide better care across hospitals. The registry also allows healthcare providers faster access to new therapies through clinical trials and enables them to compare their care against other centres to ensure they are delivering the best possible service. ERKReg participation has been approved by the RCSI Ethics Committee and only occurs after the patient has provided written consent.

PATIENT SUPPORT

In Ireland, the National Rare Diseases Office, established in 2015, is the HSE’s national coordination hub for rare diseases. It helps support people with rare conditions and their families by improving access to services and making information easier to find. For patients, this national support is important because rare diseases often need collaborative care from different specialists. This office can help by providing reliable information about genetic and rare conditions and guidance on where to access specialised care. It is also responsible for the management of Orphanet, a European data portal for rare diseases, which helps doctors connect with local and European experts to discuss highly complex cases. For more information, visit the HSE Rare Diseases website: https://www.hse.ie/eng/services/list/5/rare-diseases/. Christian Esteves has recently been appointed as the Rare Kidney Disease Clinical Coordinator in Beaumont Hospital. He aims to help patients and their families feel supported throughout their journey. He works closely with kidney doctors, nurses, and other members of the multidisciplinary team to help coordinate care, guide referrals, and ensure patients move through the appropriate care pathway as smoothly as possible. A key part of the role is acting as a point of contact for patients, families, and carers, providing information, education, support, and reassurance when needed. Christian’s role also links with the National Rare Diseases Office and the wider ERKNet network. This includes supporting care pathways, registry work, quality improvement initiatives, and ensuring patients’ voices are reflected in service development. His aim is to improve the care and support available to people living with rare kidney diseases.

UNDERSTANDING YOUR DIAGNOSIS

A rare kidney disease diagnosis can feel overwhelming, especially when symptoms are mild at first or when the condition has affected several family members. However, a confirmed diagnosis can bring clarity, guide treatment, provide access to the right specialist team, and offer better advice for relatives through family counselling and decisions about screening family members or potential kidney donors. It can also reduce unnecessary tests and help patients understand what to expect next.

If kidney disease runs in your family, if you were diagnosed at a young age, or if your kidney disease has not been fully explained, it may be worth asking your healthcare team about genetic testing.

Patients and families can contact the Irish Kidney Gene Project at Beaumont Hospital by email at irishkidneygeneproject@beaumont.ie for appointments and general enquiries.