Oligomeganephronia Clinical Presentation
- Author: Pascale H Lane, MD; Chief Editor: Craig B Langman, MD more...
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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.
- This condition may be incidentally diagnosed when renal abnormalities are discovered during the course of another illness.
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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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- 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.
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