hrp0084p3-1060 | Hypo | ESPE2015
Brichta Corinna Melanie
, Pohl Martin
, Lausch Ekkehart
, Kohlhase Jurgen
, van der Werf-Grohmann Natascha
, Wurm Michael
, Krause Alexandra
, Schwab Karl Otfried
Background: Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in early infancy. Mutations in the HNF4A gene lead to transient hyperinsulinism in early infancy and maturity-onset diabetes of youth (MODY1), later in life. Fanconi syndrome is a generalised dysfunction of the renal proximal tubule with a loss of glucose, amino acids, phosphate, low molecular weight proteins, bicarbonate and urate, causing growth failure and rickets in childho...