Charcot-Marie-Tooth: are you testing for proteinuria?

Area of Science:

• Neurology
• Nephrology
• Genetics

Background:

• Charcot-Marie-Tooth disease (CMT) is a group of inherited peripheral neuropathies.
• CMT is often linked to kidney diseases like focal segmental glomerulosclerosis (FSGS).
• The relationship between CMT and renal disease has been unclear.

Purpose of the Study:

• To investigate the potential common genetic cause of CMT and associated glomerulopathy.
• To determine the prevalence of INF2 gene mutations in patients with both conditions.

Main Methods:

• Review of existing reports on CMT-associated glomerulopathy.
• Analysis of genetic data from patients with dual phenotypes.
• Genetic testing for INF2 mutations.

Main Results:

• A high prevalence (75%) of mutations in the inverted formin gene (INF2) was observed in patients with CMT-associated glomerulopathy.
• INF2 mutations appear to be a common cause for the combined neurological and renal phenotype.

Conclusions:

• INF2 mutations are a significant cause of the dual CMT and glomerulopathy phenotype.
• Screening CMT patients for proteinuria is recommended for early detection.
• Genetic testing for INF2 mutations can identify individuals at risk for this combined condition.