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Philipp Eller, Susanne Kaser, Karl Lhotta, Emma L. Edghill, Sian Ellard, Christoph Ebenbichler, Josef R. Patsch, Renal cysts and diabetes due to a heterozygous HNF-1 β gene deletion , Nephrology Dialysis Transplantation, Volume 22, Issue 4, April 2007, Pages 1271–1272, https://doi.org/10.1093/ndt/gfl695
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Sir,
Diabetic nephropathy has become the major cause of end-stage renal failure in Western countries. However, in the renal cysts and diabetes (RCAD) syndrome, nephropathy is an independent feature rather than a direct consequence of the diabetes. This RCAD syndrome is caused by mutations of the hepatocyte nuclear factor-1β ( HNF-1 β) [ 1 ]. It is a non-diabetic renal disease resulting from abnormal renal development, and a non-ketonic diabetes mellitus characterized by an early onset, due to a primary defect in the function of the β-cells of the pancreas [ 2 ].
We present a 28-year-old proband, diagnosed with diabetes mellitus in his adolescence. He had received low-dose once-daily insulin therapy since the age of 18 years, and presented himself to our University Hospital at the age of 28. On clinical examination, the patient was lean (BMI of 19.4 kg/m 2 ), the daily insulin requirement was low (0.19 IU/kg), the basal C-peptide concentration was reduced to 0.29 pmol/ml and liver enzyme levels were in the normal range. The patient displayed no antibodies to glutamate decarboxylase or IA-2, but a chronic renal insufficiency with a glomerular filtration rate of 25.5 ml/min. Unlike most patients with diabetic nephropathy, our patient had no relevant proteinuria (0.15 g/day). He was hyperuricaemic, and had a low fractional excretion rate of uric acid (2.2%). We performed a magnetic resonance imaging of the abdomen, which revealed multiple renal cysts and an atrophic pancreatic body and tail ( Figure 1 ). Furthermore, the right kidney and the right ureter were duplicated. His birth had been pre-term at the 35th gestational week with a birth weight of 1870 g (5th centile). Neither his parents, nor his two sisters showed any clinical signs of diabetes or nephropathy.
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