History
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In neonates, kidney disease is often suspected with spontaneous pneumothorax, feeding problems, or laboratory finding abnormalities.
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Oligomeganephronia is usually found in infants in their first year of life and presents with anorexia, vomiting, and failure to thrive.
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After the first year of life, individuals with oligomeganephronia most often present with short stature, polyuria and polydipsia, or proteinuria.
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This condition may be incidentally diagnosed when renal abnormalities are discovered during the course of another illness.
Physical
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Physical examination findings are frequently normal in children with oligomeganephronia.
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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.
Causes
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Developmental arrest of the metanephric blastema at 14-20 weeks' gestation causes oligomeganephronia.
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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.
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Vascular abnormalities and accidents have been associated with this type of renal hypoplasia. The cause of most oligomeganephronia cases is unknown.
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Transcription factor 2 (TCF2) is responsible for numerous malformations that involve the kidneys. [1]
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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.
