Table 1.

Five patients exemplifying the heterogenic presentation of the multisystem phenotype of HNF1β-associated disease

Characteristic	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5
Referral reason	Suspected ADPKD	Renal insufficiency and solitary kidney	Hypomagnesemia	Cisplatin-induced hypomagnesemia	Hypomagnesemia and solitary kidney
Signs and symptoms at presentation
Renal cysts	Yes	Yes	Yes	No	Yes
Diabetes	Yes	No	No	Yes	No
Reduced renal function	No	Yes	Yes	Yes	No
CAKUT	No	Yes	No	Yes	Yes
Hypomagnesemia	No	No	Yes	Yes	Yes
Hyperuricemia/gout	Yes/no	No/no	No/no	Yes/no	Yes/yes
Elevated liver enzymes	No	Yes	No	No	No
Exocrine pancreatic disease	No	No	No	No	No
Genital malformations	No	No	Yes	No	No
Mental retardation/autism	No	No	No	No	No
Hyperparathyroidism	Yes	No	No	Yes	Yes
Sex	Woman	Man	Woman	Woman	Man
Family history	None	Multipleb	None	Multipled	None
HNF1B mutation or deletiona	c.883C>T	c.826C>T	Deletion	Deletion	Deletion
Age at presentation (at nephrologist), yr	39	27	42	50	24
Diagnostic delay (from first nephrologic referral)	3 mo	13 yr	1 mo	None	12 yr
HNF1β score at presentation	12	7, 13c	10	8	9

ADPKD, autosomal dominant polycystic kidney disease.

^aSequencing was performed by ion semiconductor and/or Sanger sequencing, and all reported mutations were confirmed by Sanger sequencing.

^bThe patient’s family history included CAKUT, reduced renal function, diabetes, and elevated liver enzymes in the patient’s father.

^cAt the first presentation to the nephrologist, the patient’s HNF1β score would have been 7; on reevaluation 13 years later, the HNF1β score had progressed to 13.

^dThe patient’s family history included gout and hypomagnesemia in the patient’s father.