ORPHA:1851
Multicystic dysplastic kidney
Also known as: MCDK · Multicystic renal dysplasia
Clinical definition (Orphanet)
A rare anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
2,033
2,033 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
2,033 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
948 in the last 10 years · low confidence
Is a treatment being tested?
5
trials for this specific condition
5 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 26 July 2026
5 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 82.7th percentile).
low confidence · 82.7th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
1,112
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Liu J4 papers · 2025
Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 21102, China.
Papers in Europe PMC - 02Wang X4 papers · 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, China.
Papers in Europe PMC - 03Briggs DC3 papers · 2026
Department of Paediatrics and Child Health, University of Cape Town/ Red Cross War Memorial Children's Hospital, Cape Town, South Africa. datonye.briggs1@ust.edu.ng.
Papers in Europe PMC - 04Brink A3 papers · 2026
Department of Nuclear Medicine Sciences Applications, Division of Human Health, Nuclear Medicine and Diagnostic Imaging Section, International Atomic Energy Agency, Vienna, Austria.
Papers in Europe PMC - 05Coetzee A3 papers · 2026
Department of Paediatrics and Child Health, University of Cape Town/ Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Papers in Europe PMC - 06Hlongwa K3 papers · 2026
Department of Nuclear Medicine, University of Cape Town/ Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Papers in Europe PMC - 07Langova K3 papers · 2026
Department of Medical Biophysics, Faculty of Medicine and Dentistry, Palacky University Olomouc, Olomouc, Czech Republic.
Papers in Europe PMC - 08Liu L3 papers · 2026
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, Guangdong, China.
Papers in Europe PMC - 09McCulloch M3 papers · 2026
Department of Paediatrics and Child Health, University of Cape Town/ Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Papers in Europe PMC - 10Nourse P3 papers · 2026
Department of Paediatrics and Child Health, University of Cape Town/ Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
5 interventional trials matched after quoted-phrase search and title/condition post-filter.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Multicystic dysplastic kidney" OR "Multicystic renal dysplasia"
MeSH descriptor terms unioned into the query: Multicystic Dysplastic Kidney
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multicystic dysplastic kidney" OR "Multicystic renal dysplasia" OR "cystic kidney disease"
Interventional trials matched via: both, phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 5 interventional · 1 observational · 1 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:D021782 UMLS:C3714581 NCIT:C123031
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MCDK
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (2033) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity