Primary care
Recommendation 1
Thiazide diuretics to mitigate calcium kidney stones
Dent Disease
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Renal tubular disease characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria
Common symptoms
LMW proteinuria 5-10x the upper limit of normalcalcinuriacalcium kidney stones
When to suspect
Recommendation 1
Molecular genetic testing of a CLCN5 or OCRL genetic variant on the X chromosome in males
How to test
Recommendation 1
Molecular genetic testing of a CLCN5 or OCRL genetic variant on the X chromosome in males
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Thiazide diuretics
Further support
Recommendation 1
Nephrologist, pediatric nephrologist. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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