SGLT1mangeltilstande

SGLT1mangeltilstande, also known as SGLT1 deficiency states, refer to a group of genetic disorders characterized by a deficiency in the sodium-glucose cotransporter 1 (SGLT1) protein. SGLT1 is primarily expressed in the renal proximal tubule and plays a crucial role in glucose reabsorption from the glomerular filtrate. The deficiency of SGLT1 leads to impaired glucose reabsorption, resulting in glucose excretion in the urine and, consequently, hyperglycemia.

There are two main types of SGLT1 deficiency states: familial neonatal diabetes (FND) and familial persistent hyperglycemia of infancy (FPH). FND is characterized by severe hyperglycemia that typically presents within the first few days of life, often requiring immediate treatment with insulin. In contrast, FPH presents with persistent hyperglycemia that may not become apparent until later in infancy or even childhood. Both conditions are inherited in an autosomal recessive manner and are caused by mutations in the SLC5A1 gene, which encodes the SGLT1 protein.

The diagnosis of SGLT1 deficiency states is typically based on clinical and laboratory findings, including hyperglycemia, glucosuria, and specific genetic testing. Treatment of these conditions primarily involves insulin therapy to manage hyperglycemia and prevent complications. In some cases, dietary modifications and oral hypoglycemic agents may also be considered. Genetic counseling and prenatal testing are important for families with a history of SGLT1 deficiency states to prevent recurrence in future generations.