Type of publication:
*Al-Salihi A.; *Kandaswamy L.; *Qamar S.; *Rangan S.; *Moulik P.; *Singh P.K.
Diabetic Medicine; Mar 2019; vol. 36 ; p. 86
Maturity onset diabetes of the young Type 5 (MODY 5), known as RCAD syndrome, results from mutations in the hepatocyte nuclear factor 1-beta (HNF1B), most commonly 17q12 deletion. We present two patients with this syndrome: Patient 1: A 31 year old male presented with symptomatic hyperglycaemia. He was diagnosed with diabetes three months previously and had been treated with a sulphonylurea. His past medical history included deranged liver function tests (LFT), azoospermia and a single functioning dysplastic kidney. He had a family history of diabetes in first-degree relatives. Genetic tests confirmed HNF1B heterozygous whole gene deletion. Patient 2: A 34 year old male with diabetes diagnosed two years previously was referred for his
complex medical background. He had a history of renal problems (renal agenesis on right and cysts on left), gout and deranged LFT. His glycaemic control was adequate on Linagliptin monotherapy. Despite the absence of relevant family history, he has been referred for genetic testing.
Discussion(s): RCAD syndrome comprises 2% of all cases of MODY and features renal cysts and diabetes alongside a spectrum of other conditions such as renal dysplasia/hypoplasia/agenesis, reproductive tract anomalies, psychiatric problems, deranged LFTs and other metabolic abnormalities in various combinations. Genetic mutations can be inherited or sporadic. Absence of family history and variability in clinical manifestations can lead to delayed recognition.
Conclusion(s): Patients with RCAD syndrome can present with a varied combination of clinical features. Clinical suspicion, irrespective of family history, is key to diagnosis and management.