Aleksandr Vasilyev, MD, PhD

The hallmark of oligomeganephronia (OMN) is hypertrophy of the glomeruli due to a compensatory response to a congenital deficiency of nephrons. Glomeruli also have mesangial hypercellularity.

The tubules in OMN respond to congenitally decreased nephron numbers by increasing their diameter, as shown in these hypertrophied proximal tubules.



  • Oligomeganephronia (OMN)


  • Oligomeganephronic hypoplasia


  • Renal hypoplasia with marked compensatory nephron hypertrophy occurring both sporadically and due to specific genetic disorders


Sporadic (Most Common)

  • Occasional PAX2 mutations, but in most cases etiology is unknown

  • Prematurity and low birth weight

Genetic Disorders (Rare)

  • Papillorenal syndrome (OMIM 120330), a.k.a. renal-coloboma syndrome

    • PAX2 mutation in 50%

      • Associated with optic disc/nerve abnormality

      • Autosomal dominant, chromosome 10q

  • Wolf-Hirschhorn syndrome (OMIM 194190)

    • Monosomy 4p, multiple congenital anomalies

  • Branchio-oto-renal syndrome (OMIM 113650, 610896, and 600963), a.k.a. Melnick-Fraser syndrome

    • Brachial fistulae/clefts, ear malformations, and OMN

    • EYA1 (40%), SIX5, and SIX1 genes combined are involved in about 50% of all cases

    • Autosomal dominant

  • HNF-1B mutations

  • Acrorenal syndrome (OMIM 102520)

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Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Oligomeganephronia
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