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Medullary sponge kidney

Disease definition

A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions.

ORPHA:1309

Classification level: Disorder
  • Synonym(s):
    • Cacchi-Ricci disease
    • MSK
    • Precalicial canalicular ectasia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Childhood, Adult
  • ICD-10: Q61.5
  • OMIM: -
  • UMLS: C0022681
  • MeSH: D007691
  • GARD: 232
  • MedDRA: 10027104
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