Overview
Infundibulopelvic stenosis-multicystic kidney syndrome is an extremely rare condition that has been described in the medical literature but is now classified as obsolete in current disease databases. This means that the condition may have been reclassified, merged with another diagnosis, or is no longer considered a distinct syndrome based on updated medical understanding. When originally described, this condition involved abnormalities of the kidneys. The term 'infundibulopelvic stenosis' refers to a narrowing in the part of the kidney where urine collects before draining into the ureter (the tube that carries urine to the bladder). 'Multicystic kidney' refers to a kidney that contains multiple fluid-filled sacs (cysts) and may not function properly. Together, these features suggested a syndrome where the kidneys developed abnormally, potentially leading to problems with urine drainage and kidney function. Because this condition is now considered obsolete, patients who were previously given this diagnosis may benefit from a re-evaluation by a clinical geneticist or nephrologist using modern diagnostic tools, including genetic testing and advanced imaging. Treatment would have been focused on managing kidney complications, preserving kidney function, and addressing any urinary obstruction. The current understanding of kidney developmental disorders has evolved significantly, and affected individuals may now receive a more precise diagnosis under updated classification systems.
Key symptoms:
Multiple cysts in one or both kidneysNarrowing of the kidney drainage systemPoor kidney functionDifficulty with urine drainageKidney enlargementHigh blood pressure related to kidney problemsRecurrent urinary tract infectionsAbnormal kidney appearance on ultrasound
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Is this diagnosis still considered accurate, or should we pursue updated genetic testing for a more precise diagnosis?,How much kidney function does my child currently have, and how is it expected to change over time?,Are there any dietary changes we should make to protect kidney health?,How often should kidney function be monitored?,What signs or symptoms should prompt us to seek urgent medical care?,Is there a risk that this condition could affect future children in our family?,Are there any clinical trials or new treatments that might be relevant?
Common questions about OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome
What is OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome?
Infundibulopelvic stenosis-multicystic kidney syndrome is an extremely rare condition that has been described in the medical literature but is now classified as obsolete in current disease databases. This means that the condition may have been reclassified, merged with another diagnosis, or is no longer considered a distinct syndrome based on updated medical understanding. When originally described, this condition involved abnormalities of the kidneys. The term 'infundibulopelvic stenosis' refers to a narrowing in the part of the kidney where urine collects before draining into the ureter (th
At what age does OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome typically begin?
Typical onset of OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome is neonatal. Age of onset can vary across affected individuals.