The renal cysts and diabetes (RCAD) syndrome in a child with deletion of the hepatocyte nuclear factor-1β gene

Varun Aggarwal, Sriram Krishnamurthy, Anju Seth, Coralie Bingham, Sian Ellard, Sharmila B. Mukherjee, Satinder Aneja

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.Met1Trp557del). 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.

Original languageEnglish (US)
Pages (from-to)1429-1431
Number of pages3
JournalIndian journal of pediatrics
Volume77
Issue number12
DOIs
StatePublished - Dec 1 2010
Externally publishedYes

Keywords

  • Hepatocyte nuclear factor (HNF)-1β gene
  • Multiplex ligation-dependent probe amplification
  • Renal cysts and diabetes

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