Nelliperaldosteronismo

Nelliperaldosteronismo refers to a rare genetic disorder that affects aldosterone production and action. Aldosterone is a hormone produced by the adrenal glands that plays a crucial role in regulating blood pressure, electrolyte balance, and fluid levels in the body. This condition typically manifests in infancy or early childhood.

The primary characteristic of nelliperaldosteronismo is a deficiency in the production of aldosterone, leading to its low levels in the blood. This deficiency can cause significant electrolyte imbalances, most notably hyponatremia (low sodium) and hyperkalemia (high potassium). These imbalances can result in a range of symptoms, including poor feeding, vomiting, dehydration, muscle weakness, and failure to thrive in infants. In older children and adults, symptoms can include fatigue, dizziness, and cardiac arrhythmias due to the potassium imbalance.

Nelliperaldosteronismo is usually caused by mutations in genes involved in the synthesis of aldosterone. These genetic defects disrupt the complex biochemical pathways responsible for hormone production. Diagnosis is typically made through blood tests measuring aldosterone and renin levels, as well as electrolyte concentrations. Genetic testing can confirm the specific gene mutation.

Treatment focuses on replacing the deficient aldosterone and managing electrolyte imbalances. This often involves lifelong hormone replacement therapy with medications like fludrocortisone. Close monitoring of blood pressure, electrolytes, and growth is essential. While the condition requires ongoing medical management, individuals with nelliperaldosteronismo can lead relatively normal lives with appropriate treatment.