Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation.
A 38-year-old lady (III.1 in Figure 1) was referred to the nephrology services with an increase in her plasma creatinine from 108 μmol/l [normal range (NR) 49–90 μmol/l] to 147 μmol/l over a 5-year period. She had previously been seen by a nephrologist at the age of 19 years when an abdominal ultrasound scan (USS) had shown a dysplastic left kidney as an incidental finding. At that time, an isotope renogram showed preserved function of the right kidney, while the left kidney contributed only 24% of total renal function. There was no history of urinary infection, she was normotensive and 24-h protein excretion was 11.1 mmol/l) at 2 h. She was also affected by congenital combined growth hormone (GH) and gonadotrophin hormone deficiencies, with a small pituitary on MR imaging. Abdominal USS at the age of 19 demonstrated an infantile uterus, and unidentifiable ovaries, consistent with her prepubertal status at the time. 



Figure 1. 
Pedigree, clinical characteristics and genotype of family. Age in years of diagnosis of diabetes, where known. Asterisk indicates HNF1A mutation P291fsinsC identified. Key: shading top left (diabetes), top right (renal dysplasia), bottom right (growth hormone deficiency), bottom left (hypothyroid).



On clinical review, there was no evidence of diabetic retinopathy or neuropathy. Medications included …