Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1β gene

TY - JOUR

T1 - Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1β gene

AU - Waller, Simon C.

AU - Rees, Lesley

AU - Woolf, Adrian S.

AU - Ellard, Sian

AU - Pearson, Ewan R.

AU - Hattersley, Andrew T.

AU - Bingham, Coralie

PY - 2002/12

Y1 - 2002/12

N2 - After renal transplantation for congenital cystic kidney disease of unknown origin, a 14-year-old boy, who was previously normoglycemic, had "steroid-induced" diabetes mellitus, which was treated with insulin. Transplant failure from chronic rejection and subsequent transplant nephrectomy allowed discontinuation of corticosteroids, the gradual withdrawal of insulin and normoglycemia. The recent description of renal cysts and diabetes (RCAD) syndrome and a strong paternal family history of early-onset diabetes mellitus prompted genetic screening of the hepatocyte nuclear factor-1β gene. A novel heterozygous frameshift mutation in exon 1 was identified, adding to the 12 kindreds thus far described. This case highlights the unmasking of the hyperglycemic component of the RCAD syndrome in the immediate postoperative period after renal transplantation and emphasizes the pleiotropic manifestations of this important genetic kidney disease.

AB - After renal transplantation for congenital cystic kidney disease of unknown origin, a 14-year-old boy, who was previously normoglycemic, had "steroid-induced" diabetes mellitus, which was treated with insulin. Transplant failure from chronic rejection and subsequent transplant nephrectomy allowed discontinuation of corticosteroids, the gradual withdrawal of insulin and normoglycemia. The recent description of renal cysts and diabetes (RCAD) syndrome and a strong paternal family history of early-onset diabetes mellitus prompted genetic screening of the hepatocyte nuclear factor-1β gene. A novel heterozygous frameshift mutation in exon 1 was identified, adding to the 12 kindreds thus far described. This case highlights the unmasking of the hyperglycemic component of the RCAD syndrome in the immediate postoperative period after renal transplantation and emphasizes the pleiotropic manifestations of this important genetic kidney disease.

KW - Diabetes mellitus (DM)

KW - Hepatocyte nuclear factor-1β (HNF-1β)

KW - Renal cysts

KW - Transplantation

UR - https://www.scopus.com/pages/publications/0036895027

U2 - 10.1053/ajkd.2002.36915

DO - 10.1053/ajkd.2002.36915

M3 - Article

C2 - 12460054

AN - SCOPUS:0036895027

SN - 0272-6386

VL - 40

SP - 1325

EP - 1330

JO - American Journal of Kidney Diseases

JF - American Journal of Kidney Diseases

IS - 6

ER -