Nesidioblastosis

Familial nesidioblastosis, and islet cell hyperplasia or persistent hyperinsulinemic hypoglycemia of infants ( PHHI of persistent hyperinsulinemic hypoglycemia of infancy ) called, is an inherited islet cell hyperplasia (enlargement) of the pancreas that already in neonates to severe hypoglycemia ( low blood sugar ) leads.

In children, nesidioblastosis is the most common cause of hypoglycemia.

Etiology

The genetic defect causing the disease gene locus is located on chromosome 11 p15.1. The genetic defect may be inherited in both autosomal recessive and autosomal dominant. The disease is genetically heterogeneous and occurs in two histopathologically different forms: Diffuse and focal nesidioblastosis. Both forms are clinically indistinguishable. The focal form is characterized by a focal adenomatous islet cell hyperplasia, whereas the diffused form in the islets of Langerhans beta cell, all hypertrophied - that is larger - is.

Therapy

The drug of choice for treatment is diazoxide. However, a majority of the patients responds neither to diazoxide, nifedipine, or even on the somatostatin analogue octreotide, or a leucine - restricted diet.