eMedicine Specialties > Pediatrics: General Medicine > Nephrology

Oligomeganephronia: Differential Diagnoses & Workup

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
Contributor Information and Disclosures

Updated: Jun 11, 2009

Differential Diagnoses

Other Problems to Be Considered

Renal atrophy
Renal dysplasia
Simple renal hypoplasia

Workup

Laboratory Studies

  • Urinalysis: Proteinuria is often the first laboratory manifestation of oligomeganephronia and precedes decline in renal function by several years.
  • Electrolyte, BUN, and creatinine tests: Laboratory manifestations of renal failure are frequently present, including elevated BUN and creatinine levels, hyponatremia, and metabolic acidosis.
  • Calcium, phosphorus, alkaline phosphatase, and parathyroid hormone assessments: Advancing renal failure may result in secondary hyperparathyroidism.
  • Hemoglobin or hematocrit level: Advancing renal failure may result in anemia due to erythropoietin deficiency.

Imaging Studies

  • Renal ultrasonography

    Renal sonogram of a newborn with spontaneous pneu...

    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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    Renal sonogram of a newborn with spontaneous pneu...

    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.

    • Small kidney size depicted on ultrasonogram usually establishes diagnosis of hypoplasia.
    • Follow-up of renal growth has not been demonstrated to be predictive of outcome.
  • Guidelines: The American College of Radiology has established guidelines regarding imaging studies in renal failure.2

Other Tests

  • If specific syndromes are suspected, the following may be useful:
    • Hearing tests
    • Ophthalmologic evaluation
    • Chromosomal studies

Histologic Findings

  • Exhaustive histologic examination of the kidney is the only way to establish an absolute diagnosis of oligomeganephronia.
  • The number of glomeruli is reduced, and the number of glomerular generations varies from 2-6 (normally ³ 10).
  • Existing glomeruli and tubules are enlarged, and glomerular diameters of 300-400 nm are common.
  • As the disease progresses, segmental sclerosis and hyalinosis of glomeruli are present.
  • Tubular atrophy with interstitial fibrosis occurs.

More on Oligomeganephronia

Overview: Oligomeganephronia
Differential Diagnoses & Workup: Oligomeganephronia
Treatment & Medication: Oligomeganephronia
Follow-up: Oligomeganephronia
Multimedia: Oligomeganephronia
References
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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. Jun 2008;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. 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. Aug 2003;14(8):2033-41. [Medline]. [Full Text].

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

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

  6. 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].

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

  8. 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. Sep 2003;64(3):793-800. [Medline].

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

  10. 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. Mar 1986;25(3):165-8. [Medline].

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

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Further Reading

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Keywords

oligomeganephronic renal hypoplasia, oligomeganephronia, end-stage renal disease, ESRD, chronic renal failure, branchiootorenal syndrome, acrorenal syndrome, tapetoretinal dystrophia, renal atrophy, renal dysplasia, arrested development of the metanephric blastema, spontaneous pneumothorax, short stature, polyuria, polydipsia, proteinuria, acrorenal syndromes, treatment, diagnosis

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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 College of Physician Executives, American Diabetes Association, American Heart Association, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, Juvenile Diabetes Foundation International, and National Kidney Foundation
Disclosure: Nothing to disclose.

Medical Editor

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 & Dental Society, 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, and Southwest Pediatric Nephrology Study Group
Disclosure: The Osler Institute Honoraria Speaking and teaching

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Luther Travis, MD, William W Glauser Professor of Pediatrics and Pediatric Nephrology, Department of Pediatrics, Divisions of Nephrology and Diabetes, University of Texas Medical Branch and Children's Hospital
Luther Travis, MD is a member of the following medical societies: Alpha Omega Alpha, American Federation for Medical Research, International Society of Nephrology, and Texas Pediatric Society
Disclosure: Nothing to disclose.

CME Editor

Howard Trachtman, MD, Program Director, Pediatrics Research, Schneider Children's Hospital, Department of Pediatrics, Division of Nephrology, Professor, Albert Einstein College of Medicine
Howard Trachtman, MD is a member of the following medical societies: American Society of Hypertension, American Society of Nephrology, American Society of Pediatric Nephrology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD, The Isaac A Abt, MD, Professor of Kidney Diseases, Feinberg School of Medicine, Northwestern University; Division Head of Kidney Diseases, Children's Memorial Hospital, Chicago
Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, and International Society of Nephrology
Disclosure: Amgen Grant/research funds None; Altus Pharmaceuticals Grant/research funds None; Genzyme Grant/research funds None; Merck Grant/research funds None; NIH Grant/research funds None

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