Proteinuric glomerulopathy in an adolescent with a distal partial trisomy chromosome 1

  • Takaya Sasaki
  • Masahiro Okabe
  • Takeshi Tosaki
  • Yu Honda
  • Masahiro Ishikawa
  • Nobuo Tsuboi
  • Takashi Yokoo
Case Report
  • 24 Downloads

Abstract

We report a case of distal partial trisomy 1 from q32.1 to 41 that have exhibited proteinuric glomerulopathy. The patient was a 17-year-old adolescent with clinical features of low birth weight, mild mental retardation and mild deafness, from the birth. He exhibited non-nephrotic range proteinuria with the mild obesity since the age of sixteen. Image studies did not reveal morphological abnormalities of the kidneys. Renal biopsy findings showed no definitive evidence of primary glomerular diseases, and were characterized by a very low glomerular density, glomerulomegaly and focal effacement of podocyte foot processes. Therapies with dietary sodium restriction, body weight reduction and the administration of angiotensin receptor blocker markedly reduced his proteinuria. It was likely that mismatch between congenital reduction in the nephron number and catch-up growth of the whole body size played a major role in the development of glomerular hyperperfusion injury. At present, the direct contribution of genetic factors due to this chromosomal disorder to such a substantial reduction in the nephron number remains uncertain.

Keywords

Distal partial trisomy chromosome 1 Low birth weight Nephron number Catch-up growth Proteinuria 

Notes

Acknowledgements

Portions of this study were presented at the American Society of Nephrology Kidney Week 2017, November 2017, New Orleans, LA.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no competing interests.

Research involving human participants and/or animals

In this article, studies of human and animal participants are not included.

Informed consent

The authors declared no conflict of interest.

References

  1. 1.
    Morris ML, Baroneza JE, Teixeira P, et al. Partial 1q duplications and associated phenotype. Mol Syndromol. 2016;6:297–303.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Balasubramanian M, Barber JC, Collinson MN, et al. Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy. Am J Med Genet A. 2009;149A:793–7.CrossRefPubMedGoogle Scholar
  3. 3.
    Bartsch C, Aslan M, Köhler J, et al. Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q. Fetal Diagn Ther. 2001;16:265–73.CrossRefPubMedGoogle Scholar
  4. 4.
    Clark BK, Lowther GW, Lee WR. Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32- qter. J Pediatr Ophthalmol Strabismus. 1994;31:41–5.PubMedGoogle Scholar
  5. 5.
    Duba HC, Erdel M, Löffler J, et al. Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome. J Med Genet. 1997;34:309–13.CrossRefPubMedPubMedCentralGoogle Scholar
  6. 6.
    Flatz S, Fonatsch C. Partial trisomy 1q due to tandem duplication. Clin Genet. 1979;15:541–2.CrossRefPubMedGoogle Scholar
  7. 7.
    Kimya Y, Yakut T, Egeli U, Ozerkan K. Prenatal diagnosis of a fetus with pure partial trisomy 1q32–44 due to a familial balanced rearrangement. Prenat Diagn. 1979;22:957–61.CrossRefGoogle Scholar
  8. 8.
    Nowaczyk MJM, Bayani J, Freeman V, Watts J, Squire J, Xu J. De novo 1q32q44 duplication and distal 1q trisomy syndrome. Am J Med Genet A. 2003;120A:229–33.CrossRefPubMedGoogle Scholar
  9. 9.
    Polityko A, Starke H, Rumyantseva N, Claussen U, Liehr T, Raskin S. Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. Cytogenet Genome Res. 2005;111:171–4.CrossRefPubMedGoogle Scholar
  10. 10.
    Steffensen DM, Chu EHY, Speert DP, Wall PM, Meilinger K, Kelch RP. Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA. Hum Genet. 1977;36:25–33.CrossRefPubMedGoogle Scholar
  11. 11.
    Utine GE, Aktas D, Alanay Y, et al. Distal partial trisomy 1q: report of two cases and review of the literature. Prenat Diagn. 2007;27:865–71.CrossRefPubMedGoogle Scholar
  12. 12.
    Watanabe S, Shimizu K, Ohashi H, et al. Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome. Am J Med Genet A. 2016;170A:908–17.CrossRefPubMedGoogle Scholar
  13. 13.
    Hoy WE, Bertram JF, Denton RD, et al. Nephron number, glomerular volume, renal disease and hypertension. Curr Opin Nephrol Hypertens. 2008;17:258–65.CrossRefPubMedGoogle Scholar
  14. 14.
    Sutherland MR, Gubhaju L, Moore L, et al. Accelerated maturation and abnormal morphology in the preterm neonatal kidney. J Am Soc Nephrol. 2011;22:1365–74.CrossRefPubMedPubMedCentralGoogle Scholar
  15. 15.
    Silverwood RJ, Pierce M, Hardy R, et al. Low birth weight, later renal function, and the roles of adulthood blood pressure, diabetes, and obesity in a British birth cohort. Kidney Int. 2013;84:1262–70.CrossRefPubMedPubMedCentralGoogle Scholar
  16. 16.
    Kwinta P, Klimek M, Drozdz D, et al. Assessment of long-term renal complications in extremely low birth weight children. Pediatr Nephrol. 2011;26:1095–103.CrossRefPubMedPubMedCentralGoogle Scholar
  17. 17.
    White SL, Perkovic V, Cass A, et al. Is low birth weight an antecedent of CKD in later life? A systematic review of observational studies. Am J Kidney Dis. 2009;54:248–61.CrossRefPubMedGoogle Scholar
  18. 18.
    Berglund D, MacDonald D, Jackson S, et al. Low birthweight and risk of albuminuria in living kidney donors. Clin Transplant. 2014;28:361–7.CrossRefPubMedPubMedCentralGoogle Scholar
  19. 19.
    Fetterman GH, Habib R, Fabrizio NS, Studnicki FM. Congenital bilateral oligonephronic renal hypoplasia with hypertrophy of nephrons: studies by microdissection. Am J Clin Pathol. 1969;52:199–207.CrossRefGoogle Scholar
  20. 20.
    Rodriguez MM, Gomez A, Abitbol C, Chandar J, Montané B, Zilleruelo G. Comparative renal histomorphometry: a case study of oligonephropathy of prematurity. Pediatr Nephrol. 2005;20:945–9.CrossRefPubMedGoogle Scholar
  21. 21.
    Isojima T, Kato N, Ito Y, Kanzaki S, Murata M. Growth standard charts for Japanese children with mean and standard deviation (SD) values based on the year 2000 national survey. Clin Pediatr Endocrinol. 2016;25:71–6.CrossRefPubMedPubMedCentralGoogle Scholar
  22. 22.
    Kobayashi A, Yamamoto I, Katsumata H, et al. Change in glomerular volume and its clinicopathological impact after kidney transplantation. Nephrology (Carlton). 2015;20(Suppl 2):31–5.CrossRefGoogle Scholar
  23. 23.
    Haruhara K, Tsuboi N, Kanzaki G, et al. Glomerular density in biopsy-proven hypertensive nephrosclerosis. Am J Hypertens. 2015;28:1164–71.CrossRefPubMedGoogle Scholar
  24. 24.
    Tsuboi N, Utsunomiya Y, Kanzaki G, et al. Low glomerular density with glomerulomegaly in obesity-related glomerulopathy. Clin J Am Soc Nephrol. 2012;7:735–41.CrossRefPubMedGoogle Scholar
  25. 25.
    Okabayashi Y, Tsuboi N, Sasaki T, et al. Glomerulopathy associated with moderate obesity. Kidney Int Rep. 2016;1:250–5.CrossRefPubMedPubMedCentralGoogle Scholar
  26. 26.
    Bierzynska A, Mccarthy H, Soderquest K. et. al. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. Kidney Int. 2017;91:937–47.CrossRefPubMedGoogle Scholar
  27. 27.
    Fuchshuber A, Jean G, Gribouval O, et al. Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet. 1995;4:2155–8.CrossRefPubMedGoogle Scholar
  28. 28.
    Peters C, Rushton HG. Vesicoureteral reflux associated renal damage: congenital reflux nephropathy and acquired renal scarring. J Urol. 2010;184:265–73.CrossRefPubMedGoogle Scholar
  29. 29.
    Koike K, Ikezumi Y, Tsuboi N, et al. Glomerular density and volume in renal biopsy specimens of children with proteinuria relative to preterm birth and gestational age. Clin J Am Soc Nephrol. 2017;12:585–90.CrossRefPubMedPubMedCentralGoogle Scholar
  30. 30.
    Luyckx VA, Bertram JF, Brenner BM, Fall C, Hoy WE, Ozanne SE, Vikse BE. Effect of fetal and child health on kidney development and long-term risk of hypertension and kidney disease. Lancet. 2013;382:273–83.CrossRefPubMedGoogle Scholar

Copyright information

© Japanese Society of Nephrology 2018

Authors and Affiliations

  1. 1.Division of Nephrology and Hypertension, Department of Internal MedicineThe Jikei University School of MedicineTokyoJapan
  2. 2.Department of NephrologyKawaguchi Municipal Medical CenterKawaguchiJapan

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