A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes

Case presentation The patient is a 48-year-old female who was referred for a renal transplant evaluation in 2006. She was first diagnosed with kidney disease in her teens after presenting with fatigue and general malaise. On referral to a local nephrologist approximately 30 years ago, an imaging study was performed demonstrating renal cysts and the patient was diagnosed to have medullary cystic kidney disease (MCKD). At the age of 19, the patient was diagnosed with type 1 diabetes and insulin therapy was started. Over the next several years, her kidney function declined slowly (Figure 1). On presentation for her transplant evaluation, her major symptom was fatigue, which had not changed substantially in 30 years. She also had occasional back pain, which was attributed to bleeding within renal cysts. The patient had no history of gout or genitourinary tract anomalies. There was no history of kidney disease, gout, or diabetes in first-degree relatives. She has two healthy brothers and healthy parents and has no children. There is a paternal family history of diabetes in second-degree relatives. Her first menses was at age 12 and were regular until 3 months before her appointment. The patient has had no pregnancies or miscarriages. Physical examination revealed a temperature of 36.9 degrees C, pulse 101, and blood pressure of 128/92 mmHg. There was no evidence of dysmorphic features, pre-auricular pits, or tophi. Her oropharynx was without lesions and her palatal arch and dentition were normal. Fundoscopic examination was significant for evidence of copper wiring with early AV nicking, scattered microaneurysms without hemorrhage, and sharp disk margins. Her neck examination showed no goiter or lymphadenopathy. Cardiovascular examination was normal and her lung fields were clear to auscultation. Examination of the abdomen was unrevealing with no hepatosplenomegaly. There were no flank masses or tenderness noted. Laboratory studies at the time of transplant evaluation showed a creatinine of 2.8mg/100 ml with an estimated glomerular filtration rate of 19.9 ml/min/1.73 m(2). Urinalysis was significant for 3 + glucose and 1 + protein and urine protein/creatinine ratio of 0.6 (Table 1). Her uric acid was 7 mg/100 ml and her C-peptide was 2.5 ng/ml with a simultaneous blood sugar of 341 mg/ml. Anti-islet cell and anti-glutamic acid decarboxylase antibodies were both negative. An MRI showed multiple cysts of varying sizes throughout both kidneys, some with signal characteristics consistent with hemorrhage (Figure 2a and b). The body and tail of the pancreas were severely atrophic (Figure 2c and d).