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Written By THT Editorial Team

Dr. Nabin Bahadur Basnet

Reviewed by Dr. Nabin Bahadur Basnet, Consultant Interventional Nephrologist, MBBS, PhD, FISN

Rare kidney diseases pose significant challenges to patients worldwide, often leading to chronic debilitation, morbidity, or even death. These conditions, characterized by low prevalence and genetic or metabolic origins, demand specialized care and concerted efforts to enhance awareness, diagnosis, and treatment accessibility (Iyengar et al., 2023). This article explores the landscape of rare kidney diseases, focusing on the challenges faced by children, common elements in these conditions, and the imperative need for advocacy and research initiatives.

Rare Kidney Diseases in Children: A Call for Action

Rare kidney diseases affect a substantial number of children globally, with a prevalence of 60–80 cases per 100,000 population in Europe and the United States. These diseases include over 150 different conditions, many of which manifest in childhood (Iyengar et al., 2023). Children with rare kidney diseases often face serious morbidity and require lifelong treatment. However, inequitable access to disease-modifying therapies remains a significant challenge, particularly for children from low- and middle-income countries (LMICs) (Iyengar et al., 2023).

Notable Rare Kidney Diseases:

  1. Cystinosis: A rare genetic disease causing cystine accumulation in cells, affecting various organs including the kidneys. Treatment involves cysteamine therapy to reduce cystine levels.
  2. Primary Hyperoxaluria Type 1: A genetic disorder causing oxalate buildup in the kidneys, often necessitating combined liver and kidney transplantation.
  3. Alport Syndrome: A genetic condition affecting the kidneys, ears, and eyes due to defects in specific genes. It can lead to kidney failure and other complications.
  4. Amyloidosis: Characterized by abnormal protein accumulation in organs like the kidneys, heart, brain, liver, and intestines.
  5. Polycystic Kidney Disease (PKD): Genetic mutations leading to fluid-filled cysts in the kidneys. Treatment varies based on the type of PKD.

Diagnosis of Rare Kidney Diseases:

Children suspected of having rare kidney diseases are given a thorough clinical assessment by pediatric nephrologists. Symptoms such as swelling, changes in urine output, blood in urine, fatigue, and growth issues are evaluated to determine the need for further testing (National Institute of Diabetes and Digestive and Kidney Diseases, n.d.).

Genetic testing plays a crucial role in diagnosing rare kidney diseases with a genetic basis. Tests like the Genetic Renal Panel screen complement genes to identify genetic mutations associated with conditions like Alport syndrome, cystinosis, or polycystic kidney disease (University of Iowa Hospitals & Clinics, n.d.).

Imaging techniques such as ultrasound are used to visualize the kidneys and detect abnormalities like cysts or structural defects that may indicate specific rare kidney diseases like autosomal recessive polycystic kidney disease (ARPKD) (National Institute of Diabetes and Digestive and Kidney Diseases, n.d.).

Laboratory tests are conducted to assess kidney function, protein levels in urine (proteinuria), blood in urine (hematuria), electrolyte imbalances, and other markers that can provide insights into the underlying condition causing the kidney disease (National Institute of Diabetes and Digestive and Kidney Diseases, n.d.).

Specialized clinics like the Rare Renal Disease Clinic and Renal Genetics Clinic offer comprehensive evaluation and management for children with rare kidney diseases. These clinics provide state-of-the-art genetic testing and access to clinical trials for new therapies (University of Iowa Hospitals & Clinics, n.d.).

By combining these diagnostic approaches under the care of experienced specialists like pediatric nephrologists and geneticists, children with rare kidney diseases can receive accurate diagnoses leading to tailored treatment plans and improved outcomes.

Common Elements in Rare Kidney Diseases

Rare kidney diseases share common challenges such as small patient populations, unidentified disease causes, lack of biomarkers for disease monitoring, and complex care requirements (Aymé et al., 2017). Diagnostic hurdles often delay accurate identification of these conditions, necessitating advanced techniques like genetic testing for precise diagnosis (Aymé et al., 2017).

Advocacy Efforts and Research Initiatives

Enhancing access to diagnostic testing through low-cost genetic testing initiatives and training clinicians in interpreting genetic analyses are crucial steps towards improving outcomes for individuals with rare kidney diseases (Iyengar et al., 2023). Collaborative efforts involving patient support organizations, healthcare providers, researchers, governments, and pharmaceutical industries are essential to drive advancements in diagnosis, treatment accessibility, and research innovation.

In Conclusion

Uniting stakeholders globally and prioritizing the needs of individuals with rare kidney diseases will lead to better outcomes and quality of life. Addressing the challenges posed by rare kidney diseases requires a multifaceted approach encompassing advocacy for equitable access to care, research into innovative treatments, and enhanced awareness initiatives (Rare Kidney Disease Foundation, n.d.).


  1. Iyengar, A., Lanewala, A. A., Shirol, P. B., & Pais, P. (2023). Rare Kidney Diseases: Children Being Left Out in the Cold. Clinical Journal of the American Society of Nephrology. https://doi.org/10.2215/CJN.0000000000000374
  2. Aymé, S., Bockenhauer, D., Day, S., et al. (2017). Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, 92(4), 796-808. https://doi.org/10.1016/j.kint.2017.06.018
  1. Wong, K., Pitcher, D., Braddon, F., Downward, L., Steenkamp, R., Annear, N., et al. (2024). Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. Retrieved March 26, 2024, from https://doi.org/10.1016/S0140-6736(23)02843-X.
  2. Deeley, M. (2024, February 29). Rare Disease Day: Rare kidney diseases you may not know about. American Kidney Fund. Retrieved March 26, 2024, from https://www.kidneyfund.org/article/rare-disease-day-rare-kidney-diseases-you-may-not-know-about.
  3. Rare Kidney Disease Foundation Website https://www.rarekidney.org
  4. National Institute of Diabetes and Digestive and Kidney Diseases. (n.d.). Kidney Disease in Children. Retrieved March 26, 2024, from https://www.niddk.nih.gov/health-information/kidney-disease/children#diagnose.
  5. University of Iowa Hospitals & Clinics. (n.d.). Rare Kidney Diseases. Retrieved March 26, 2024, from https://uihc.org/services/rare-kidney-diseases.
  6. National Institute of Diabetes and Digestive and Kidney Diseases. (n.d.). Autosomal Recessive Polycystic Kidney Disease. Retrieved March 26, 2024, from https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-recessive-pkd.