Charcot-Marie-Tooth disease dominant intermediate E

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare condition that affects both the nerves and the kidneys. This condition is a form of hereditary peripheral neuropathy that is combined with kidney problems, and about 15 cases have been described in published reports. Many patients show protein in their urine at the start, and some may develop features of nephrotic syndrome, a condition where the kidneys leak too much protein into the urine.

People with this condition often experience signs of kidney issues such as proteinuria, which may occur with or without small amounts of blood in the urine. Some may also develop nephrotic syndrome. Because the condition is related to Charcot-Marie-Tooth disease, symptoms related to nerve function, like weakness or sensory changes, could also be present, though detailed descriptions of these nerve symptoms are limited.

The condition is linked to changes in the INF2 gene. It is described as an autosomal dominant disorder, meaning that a change in one copy of the gene can cause the condition. However, the exact pattern of how the disorder is passed down in families is not yet clear. Genetic factors contribute to both the peripheral neuropathy and the kidney problems seen in this disorder.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.