Table 1.

Clinical Characteristics of Patients with the HUPRA Syndrome

	Patient F1:III-1	Patient F1:III-6	Patient F2:II-2
Renal Disease
Hyperuricemia	+	+	+
Low FeUA	+	+	+
Salt wasting	+	+	+
Polyuria	+	ND	+
Elevated BUN (disproportionate to serum creatinine)	+	+	+
Hypochloremic metabolic alkalosis	+	+	+
Hypomagnesemia	+	+	+
High FeMg	+	+	+
Progressive renal failure	+	+	+
Extrarenal Manifestations
Prematurity	+	+	+
Pulmonary hypertension	+	+	+
Elevated serum lactate	+	+	+
Failure to thrive	+	+	+
Global developmental delay	+	+	+
Diabetes mellitus	+	±	+
Pancytopenia	+	-	-

Abbreviations: FeUA, fractional excretion of uric acid; FeMg, fractional excretion of magnesium; ND, not determined; plus and minus signs, stress hyperglycemia.