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Oligomeganephronia Clinical Presentation

  • Author: Pascale H Lane, MD; Chief Editor: Craig B Langman, MD  more...
 
Updated: Dec 28, 2014
 

History

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  • In neonates, kidney disease is often suspected with spontaneous pneumothorax, feeding problems, or laboratory finding abnormalities.
  • Oligomeganephronia is usually found in infants in their first year of life and presents with anorexia, vomiting, and failure to thrive.
  • After the first year of life, individuals with oligomeganephronia most often present with short stature, polyuria and polydipsia, or proteinuria.
  • This condition may be incidentally diagnosed when renal abnormalities are discovered during the course of another illness.
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Physical

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  • Physical examination findings are frequently normal in children with oligomeganephronia.
  • In neonates with oligomeganephronia, particular attention should be directed to diagnosis of associated syndromes, including branchiootorenal syndrome, acrorenal syndrome, and tapetoretinal dystrophia.
    • Branchiootorenal syndrome is an autosomal dominant disorder that includes preauricular sinus or dimples, abnormally formed ears, branchial fistula, and hearing loss.
    • Acrorenal syndromes may occur sporadically or in an autosomal recessive manner; these include ectrodactyly and urinary tract malformations.
    • Tapetoretinal dystrophia occurs more frequently with nephronophthisis but has been described with oligomeganephronia.
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Causes

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  • Developmental arrest of the metanephric blastema at 14-20 weeks' gestation causes oligomeganephronia.
  • Although oligomeganephronia is associated with some genetic syndromes, most cases of oligomeganephronia are sporadic. However, mutations in the paired-box transcription factor, (PAX2) have been seen even in persons with nonsyndromic oligomeganephronia. Recently, mutations in the homeobox transcription factor (hepatocyte nuclear factor-1 β) have been described in association with oligomeganephronia. Interestingly, the heterozygous mutation may be associated with development of the kidney lesion.
  • Vascular abnormalities and accidents have been associated with this type of renal hypoplasia. The cause of most oligomeganephronia cases is unknown.
  • Transcription factor 2 (TCF2) is responsible for numerous malformations that involve the kidneys.[1]
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Contributor Information and Disclosures
Author

Pascale H Lane, MD Helen Freytag Distinguished Professor of Pediatrics and Associate Chair for Research, Department of Pediatrics, Section of Nephrology, University of Nebraska Medical Center; Editor-in-Chief, American Society of Nephrology Kidney News

Pascale H Lane, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American Association for Physician Leadership, American Diabetes Association, American Heart Association, American Physiological Society, JDRF, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, National Kidney Foundation

Disclosure: Received consulting fee from Amag Pharmaceuticals for data safety monitoring board.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Luther Travis, MD Professor Emeritus, Departments of Pediatrics, Nephrology and Diabetes, University of Texas Medical Branch School of Medicine

Luther Travis, MD is a member of the following medical societies: Alpha Omega Alpha, American Federation for Medical Research, International Society of Nephrology, Texas Pediatric Society

Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD The Isaac A Abt, MD, Professor of Kidney Diseases, Northwestern University, The Feinberg School of Medicine; Division Head of Kidney Diseases, The Ann and Robert H Lurie Children's Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, International Society of Nephrology

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Raptor Pharmaceuticals; Eli Lilly and Company; Dicerna<br/>Received grant/research funds from NIH for none; Received grant/research funds from Raptor Pharmaceuticals, Inc for none; Received grant/research funds from Alexion Pharmaceuticals, Inc. for none; Received consulting fee from DiCerna Pharmaceutical Inc. for none.

Additional Contributors

Richard Neiberger, MD, PhD Director of Pediatric Renal Stone Disease Clinic, Associate Professor, Department of Pediatrics, Division of Nephrology, University of Florida College of Medicine and Shands Hospital

Richard Neiberger, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Medical Research, American Medical Association, American Society of Nephrology, American Society of Pediatric Nephrology, Christian Medical and Dental Associations, Florida Medical Association, International Society for Peritoneal Dialysis, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Shock Society, Sigma Xi, Southern Medical Association, Southern Society for Pediatric Research, Southwest Pediatric Nephrology Study Group

Disclosure: Nothing to disclose.

References
  1. Zaffanello M, Brugnara M, Franchini M, Fanos V. TCF2 gene mutation leads to nephro-urological defects of unequal severity: an open question. Med Sci Monit. 2008 Jun. 14(6):RA78-86. [Medline]. [Full Text].

  2. [Guideline] Bush WH Jr, Choyke PL, Bluth RI, et al. Renal failure. ACR Appropriateness Criteria. 2005. [Full Text].

  3. Fuke Y, Hemmi S, Kajiwara M, Yabuki M, Fujita T, Soma M. Oligomeganephronia in an adult without end stage renal failure. Clin Exp Nephrol. 2012 Apr. 16(2):325-8. [Medline].

  4. Bohn S, Thomas H, Turan G, et al. Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. J Am Soc Nephrol. 2003 Aug. 14(8):2033-41. [Medline]. [Full Text].

  5. Broyer M, Soto B, Gagnadoux MF, et al. Oligomeganephronic renal hypoplasia. Adv Nephrol Necker Hosp. 1997. 26:47-63. [Medline].

  6. Drukker A. Oligonephropathy: from a rare childhood disorder to a possible healthproblem in the adult. Isr Med Assoc J. 2002 Mar. 4(3):191-5. [Medline].

  7. Janin-Mercier A, Palcoux JB, Gubler MC, et al. Oligomeganephronic renal hypoplasia with tapetoretinal degeneration. Report of one case with ultrastructural study of the renal biopsy. Virchows Arch A Pathol Anat Histopathol. 1985. 407(4):477-83. [Medline].

  8. Miltenyi M, Czeizel AE, Balogh L, Detre Z. Autosomal recessive acrorenal syndrome. Am J Med Genet. 1992 Jul 15. 43(5):789-90. [Medline].

  9. Sagen JV, Bostad L, Njolstad PR, Sovik O. Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers. Kidney Int. 2003 Sep. 64(3):793-800. [Medline].

  10. Salomon R, Tellier AL, Attie-Bitach T, et al. PAX2 mutations in oligomeganephronia. Kidney Int. 2001 Feb. 59(2):457-62. [Medline].

  11. Van Acker KJ, Roodhooft AM, Melis K. Monozygotic twins non-concordant for oligomeganephronic renal hypoplasia: artery-vein placental shunting as a possible pathogenetic mechanism. Clin Nephrol. 1986 Mar. 25(3):165-8. [Medline].

  12. Widdershoven J, Monnens L, Assmann K, Cremmers C. Renal disorders in the branchio-oto-renal syndrome. Helv Paediatr Acta. 1983 Dec. 38(5-6):513-22. [Medline].

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Renal sonogram of a newborn with spontaneous pneumothorax, preauricular pits, and branchial cysts. The right kidney was absent, and the left kidney was hyperechoic and hypoplastic. The left kidney's length measured 1.8 cm; kidneys in newborns are normally 4.5 cm.
 
 
 
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