Dr Neeru Agarwal1, Dr NIKOLAY BULANOV2, Dr SOUMYA REDDY3, Dr DEEPTHI SHETTY4, DR SEHER KAMAL5, DR MADHILETI SRAVANI3, DR LUIS TORO6, DR SUMAN BEHERA7, DR RENE SCALET DOS SANTOS NETO8, DR DINA NILASARI9, MONICA MOORTHY11, CHARU MALIK11, DR PRIYA PAIS3, DR BRENDAN SMYTH1,12, DR VIVEKANAND JHA11,13,14,15
1NHMRC Clinical Trials Centre, University of Sydney, Camperdown, Australia, 2Tareev Clinic of Internal Diseases, Department of Internal, Occupational Diseases and Rheumatology, Sechenov First Moscow State Medical University, Moscow, Russia, 3St John's Medical College & National Academy of Health Sciences, Banglore, India, 4Department of Pediatrics, PSG Institute of Medical Science and Research , Coimbatore, India, 5KJ Somaiya Medical College, Mumbai, India, 6Division of Nephrology, Department of Medicine, Hospital Clínico Universidad de Chile, Santiago, Chile, 7Department of Medicine, McMaster University, Hamilton, Canada, 8Faculdades Pequeno Príncipe, Curitiba, Brazil, 9Postgraduate school, Hasanuddin University, , Indonesia, 10Clinical Research Department, Siloam Hospitals Group, , Indonesia, 11International Society of Nephrology, Brussels, Belgium, 12St George Hospital, Kogarah, Australia, 13The George Institute for Global Health University of New South Wales, New Delhi, India, 14School of Public Health, Imperial College, London, United Kingdom, 15Prasanna School of Public Health, Manipal Academy of Higher Education, Manipal, India
Biography:
Dr Neeru Agarwal is a PhD Candidate at the CTC. She is a Nephrologist with an interest in researching the use of routinely collected electronic healthcare data to understand kidney diseases. Neeru completed her medical school at the University of New South Wales. She completed her advanced training in Nephrology at Royal Prince Alfred Hospital and Concord Hospital and was a Clinical Fellow at the Imperial College of London, Hammersmith Hospital.
Aim:
This scoping review aims to map existing literature on the burden of rare kidney diseases (RKDs), including incidence, prevalence and geographical reporting patterns.
Background:
RKDs are individually uncommon but collectively significant contributors to kidney morbidity. Despite growing attention, there is limited synthesis of global epidemiological data.
Methods:
We searched MEDLINE for articles published in English between December 2013 and 2023 using terms for RKDs as defined in the Orphanet database, epidemiology (e.g. incidence, prevalence, case reports, case series), and kidney disease (e.g. chronic kidney disease, proteinuria, kidney failure). Two reviewers independently screened titles and abstracts, with discrepancies resolved by consensus. Case reports and studies that did not report incidence or prevalence were excluded at full-text review. For excluded case reports, we extracted the rare disease group and country of origin, summarized using descriptive statistics. Data extraction is ongoing for studies reporting incidence or prevalence estimates.
Results:
Of the 10,784 abstracts screened, 3,265 were excluded at the title and abstract stage, and 7,519 proceeded to full-text review. Of these, 745 articles are currently undergoing detailed data extraction. Among the currently excluded full-text articles, nearly 80% are case reports. The majority of these described glomerular diseases (39%), thrombotic microangiopathies (16%), rare renal tubular diseases (13%), and renal or urinary tract malformations (12%). Most case reports originated from high-income countries (69%), followed by upper-middle income (20%), lower-middle income (10%), and low-income (0.6%) countries.
Conclusions:
These findings highlight that existing RKD literature remains largely descriptive, with significant geographic imbalance. By providing the first comprehensive snapshot of global research activity in RKDs, this work will provide valuable insight into current efforts and underscores critical gaps that warrant future investigation.