Oligomeganephronia Clinical Presentation

Updated: Oct 04, 2018
  • Author: Pascale H Lane, MD; Chief Editor: Craig B Langman, MD  more...
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Presentation

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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