Abstract

Case Report

Diabetes and chronic kidney disease: a rare cause for a very common association

José Agapito Fonseca*, Sofia Jorge, Joana Gameiro, José António Lopes and José Oliveira Guerra

Published: 20 November, 2019 | Volume 3 - Issue 3 | Pages: 164-167

The authors present the case of a 45-year-old female patient with diabetes and chronic kidney disease (CKD). She had unsatisfactory glycemic control, and showed some intellectual limitations. Her urine exam was unremarkable, and her renal ultrasound revealed single right kidney with aspects suggesting ureteropelvic junction syndrome. Her mother had also suffered from diabetes and CKD G5D presenting in the sixth to seventh decade.

An hereditary cause for CKD was considered, which led the authors to investigate an autosomal dominant cause for CKD with a tubulointerstitial phenotype, taking into account the personal and family history for diabetes and also the renal imaging; a large deletion in the HNF-1β gene was identified through Multiplex Ligand Probe Assay (MLPA) analysis, explaining the phenotype.

Genetic causes of CKD should be considered in the presence of positive family history for CKD, and the coexistence of diabetes with bland urine sediment should raise the possibility of a syndromic cause of the phenotype, namely involving HNF-1β gene mutations or deletions. 

Read Full Article HTML DOI: 10.29328/journal.jcn.1001043 Cite this Article Read Full Article PDF

References

  1. Mehta L, Jim B. Hereditary Renal Diseases. Semin Nephrol. 2017; 37: 354-361. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/28711074
  2. Bleyer A, Kmoch S. Autosomal dominant tubulointerstitial kidney disease: of names and genes. Kidney Int. 2014; 86: 459–461. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/25168494
  3. Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report. Kidney Int. 2015; 88: 676-683. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/25738250
  4. Coffinier C, Barra J, Babinet C, Yaniv M. Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis. Mech Dev. 1999; 89: 211–213. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/10559500
  5. Kolatsi-Joannou M, Bingham C, Ellard S, Bulman MP, Allen LI, et al. Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol. 2001; 12: 2175–2180. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/11562418
  6. Desgrange A, Heliot C, Skovorodkin I, Akram SU, Heikkilä J, et al. HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis. Development. 2017; 15: 144: 4704-4719. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/29158444
  7. Raaijmakers A, Corveleyn A, Devriendt K, van Tienoven TP, Allegaert K, et al. Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract. Nephrol Dial Transplant. 2015; 30: 835-842. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/25500806
  8. Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C. HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol. 2015; 11: 102-112. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/25536396
  9. Bockenhauer D, Jaureguiberry G . HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatr Nephrol. 2016; 31: 707-714. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/26160100
  10. Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol. 2010; 5: 1079-1090. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/20378641
  11. Weber S, Moriniere V, Knuppel T, Charbit M, Dusek J, et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006; 17: 2864–2870. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/16971658
  12. Ulinski T, Bensman A, Lescure S. Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences. Arch Pediatr. 2009; 16: 1049-1056. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/19361964
  13. van der Made CI, Hoorn EJ, de la Faille R, Karaaslan H, Knoers NV, et al. Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review. Am J Nephrol. 2015; 42: 85-90. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/26340261
  14. Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, et al. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol. 2007; 18: 923–993. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17267738
  15. Clissold RL, Ashfield B, Burrage J, Hannon E, Bingham C, et al. Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion. Clin Epigenetics. 2018; 10: 97. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/30021660
  16. Faguer S, Chassaing N, Bandin F, Prouheze C, Garnier A, et al. The HNF1B score is a simple tool to select patients for HNF1B gene analysis. Kidney Int. 2014; 86: 1007-1015. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/24897035
  17. Chan SC, Zhang Y, Shao A, Avdulov S, Herrera J, et al. Mechanism of fibrosis in HNF1 B­related autosomal dominant tubulointerstitial kidney disease. J Am Soc Nephrol. 2018; 29: 2493–2509. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/30097458
  18. Lata S, Marasa M, Li Y, Fasel DA, Groopman E, et al. Whole-exome sequencing in adults with chronic kidney disease: a pilot study. Ann Intern Med. 2018; 168; 100–109. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/29204651

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