An Atypical HNF4A Mutation Which Does Not Conform to the Classic Presentation of HNF4A-MODY

Table 1

Comparison of patient phenotype with the common MODY subtypes.

	Patient (HNF4A mutation)	HNF4A-MODY (MODY 1)	HNF1A-MODY (MODY 3)	GCK-MODY (MODY 2)
	–	≤10%	~30–50%	~30–50%
Age of Diagnosis	41 y/o	<25 y/o	<25 y/o	Usually age when blood glucose levels first measured
Pathophysiology	–	Transcription factor, decreased insulin secretion	Transcription factor,; Decreased insulin secretion	Decreased glucose sensitivity, decreased glycogen storage
Characteristics	No current evidence of microvascular complications; Managed with lifestyle modifications; Hypertriglyceridemia, mildly elevated LDL and VLDL; Normal Apo-B, Apo-A1	Microvascular complications; Sensitive to sulfonylureas; Low TG, high LDL, low HDL; Low Apo A-II, C-III, B; Fetal Macrosomia; Neonatal hypoglycemia	Microvascular complications; Sensitive to sulfonylureas; Normal or high HDL; Glycosuria	No microvascular complications; Mild, generally does not require treatment

of occurrence among MODY patient with a genetic diagnosis. MODY = Mature Onset Diabetes of the Young; HNF = Hepatocyte Nuclear Factor; GCK = glucokinase; TG = triglyceride; LDL = low density lipoprotein; HDL = high density lipoprotein; VLDL = very low density lipoprotein; Apo = apolipoprotein. See reference [1].