Proteinuria in Frasier syndrome

Area of Science:

• Nephrology
• Genetics
• Pharmacology

Background:

• Frasier syndrome (FS) is a genetic glomerulopathy caused by mutations in the Wilms' tumour suppressor gene (WT1).
• Traditionally, proteinuria in FS is considered refractory to treatment and leads to end-stage renal failure.

Observation:

• A patient with FS presented with atypical clinical features.
• This patient exhibited an unusual and beneficial antiproteinuric response to a combination of renin-angiotensin system (RAS) inhibitors and indomethacin.

Findings:

• The combination therapy resulted in sustained normal renal function and complete remission of proteinuria over 13 years of follow-up.
• This suggests a potential therapeutic benefit of RAS inhibitors and indomethacin in managing FS.

Implications:

• This combination therapy may represent a viable initial treatment strategy for patients diagnosed with Frasier syndrome.
• Further prospective studies are warranted to validate these findings and establish optimal treatment protocols, considering alternatives like Cyclosporine (CsA) if initial therapy is insufficient.