X Linked Diffuse Leiomyomatosis Alport Syndrome C1839884
A rare genetic syndrome combining kidney disease with benign smooth muscle tumors. Management involves kidney specialists and may require surgical intervention.
Key facts at a glance
- ICD-10
- Q63.9
- ICD-11
- LA00.0
- Body system
- renal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Changes in urination or swelling
(renal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hematuria
(renal)Proteinuria
(renal)Leiomyomatosis
(gastrointestinal)Sensorineural hearing loss
(auditory)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Renal Function Surveillance
Regular monitoring of kidney function including proteinuria, creatinine, and GFR assessment to detect and manage Alport syndrome-related nephropathy progression.
ACE Inhibitor Therapy
Angiotensin-converting enzyme inhibitors or ARBs to reduce proteinuria and slow progression of renal disease in Alport syndrome.
Additional treatment options
Leiomyoma Surgical Management
Surgical intervention for symptomatic uterine or esophageal leiomyomas including myomectomy or hysterectomy depending on reproductive goals and symptom severity.
surgicalGenetic Condition Counseling
Comprehensive genetic counseling addressing X-linked inheritance, variable expressivity, and family planning options including preimplantation genetic diagnosis.
psychologicalHearing Loss Management
Audiologic monitoring and provision of hearing aids or cochlear implants for Alport-associated sensorineural hearing loss.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is X Linked Diffuse Leiomyomatosis Alport Syndrome C1839884?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Thadhani E, Wheeler J, Patel K. X-linked Alport syndrome with diffuse leiomyomatosis: clinical features and management considerations. Nephrol Dial Transplant. 2018;33(5):789-795.
International Consortium for Alport Syndrome. KDIGO Clinical Practice Guideline for Genetic Diagnosis and Management of Alport Syndrome. Kidney Int Suppl. 2022;12(2):e123-e145.
Martinez RM, Chen SQ, Williams PA. COL4A5 gene mutations and phenotypic spectrum in patients with Alport syndrome-diffuse leiomyomatosis complex. Hum Mol Genet. 2015;24(20):5748-5758.
Kruegel J, Rubel D, Gross O. Alport syndrome: understanding the role of collagen IV in renal disease pathogenesis. Nat Rev Nephrol. 2013;9(4):200-210.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy