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Oligomeganephronia

Orpha number ORPHA2260
Synonym(s) Oligomeganephronic renal hypoplasia
Prevalence Unknown
Inheritance
  • Sporadic
Age of onset Variable
ICD-10
  • Q60.4
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 18417009

Summary

Oligomeganephronic renal hypoplasia is a severe developmental defect of both kidneys occurring in the absence of a urinary tract malformation. Prevalence is unknown. Birth weight is often below the average value. Patients may present at birth with renal failure, defects in urine concentration, urinary sodium loss or acidosis. During the first year of life, the usual symptom is persistent anorexia with vomiting, and height-weight growth delay. Oligomeganephronic renal hypoplasia is characterised by the following histopathological features: a reduced number of nephrons, hypertrophic glomeruli with diameters twice the normal size, hypertrophic tubules and thickening of Bowman's capsule. Both kidneys are symmetrically affected. In some patients, the defect can be diagnosed following the incidental discovery of proteinuria on routine urinalysis. In other patients, the disease may be discovered because of impaired statural growth, polyuria and polydipsia. Most reported cases are not associated with a genetic disorder, except in case of BOR syndrome (see this term). At the stage of terminal renal failure, management includes a dialysis-transplantation program.

Expert reviewer(s)

  • Dr Patrick NIAUDET

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