Oligomeganephronia



Oligomeganephronia


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.


TERMINOLOGY


Abbreviations



  • Oligomeganephronia (OMN)


Synonyms



  • Oligomeganephronic hypoplasia


Definitions



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


ETIOLOGY/PATHOGENESIS


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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