The Renal Cysts and Diabetes (RCAD) Syndrome in a Child with Deletion of the Hepatocyte Nuclear Factor-1β Gene.
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Date
2010-12
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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.
Description
Keywords
Renal cysts and diabetes, Hepatocyte nuclear factor (HNF)-1β gene, Multiplex ligation-dependent probe amplification
Citation
Aggarwal Varun, Krishnamurthy Sriram, Seth Anju, Bingham Coralie, Ellard Sian, Mukherjee Sharmila B, Aneja Satinder. The Renal Cysts and Diabetes (RCAD) Syndrome in a Child with Deletion of the Hepatocyte Nuclear Factor-1β Gene. Indian Journal of Pediatrics. 2010 Dec ; 77 (12): 1429-1431.