title: The renal cysts and diabetes (RCAD) syndrome in a child with deletion of the hepatocyte nuclear factor-1β gene.
abstract: The authors describe a 14-yr-old boy who presented with non-ketotic hyperglycemia, elevated serum creatinine levels and deranged liver function. There was no microalbuminuria or proteinuria. He also had mild mental retardation with learning difficulties. Ultrasonography of the abdomen revealed multiple renal cysts of varying sizes in both the kidneys. Dosage analysis of the hepatocyte nuclear factor (HNF)-1β gene by multiplex ligation-dependent probe amplification (MLPA) detected a heterozygous whole gene deletion (p.Met1_Trp557del). This finding is consistent with the diagnosis of renal cysts and diabetes (RCAD) syndrome. This is the first case of the RCAD syndrome reported in an Indian patient. Pediatricians need to be aware of this entity whenever renal disease is seen in a diabetic child in the absence of microalbuminuria or proteinuria.
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, 110001, India.
authors.forename: Varun
authors.initials: V
authors.lastname: Aggarwal
authors.forename: Sriram
authors.initials: S
authors.lastname: Krishnamurthy
authors.forename: Anju
authors.initials: A
authors.lastname: Seth
authors.forename: Coralie
authors.initials: C
authors.lastname: Bingham
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Sharmila B
authors.initials: SB
authors.lastname: Mukherjee
authors.forename: Satinder
authors.initials: S
authors.lastname: Aneja
mesh_terms: D000293:Adolescent; D003928:Diabetic Nephropathies / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D017353:Gene Deletion; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008297:Male; D013577:Syndrome
chemical_list: D051539:Hepatocyte Nuclear Factor 1-beta