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21,996 results
  • GeneReviews®: Hereditary Distal Renal Tubular Acidosis [BOOK]
    University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya AAlexander RT, Law L, … Santos FBOOK
  • Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations…
  • Medullary Sponge Kidney: Current Perspectives. [Journal Article]
    Int J Nephrol Renovasc Dis 2019; 12:213-218Imam TH, Patail H, Patail H
  • Medullary Sponge Kidney (MSK) disease is a rare congenital malformation of the distal nephron where cystic dilatation is appreciable in the collecting ducts and renal papillae. Most cases of the malformation are thought to arise from a malfunction within neurotrophic factor and tyrosine kinase interactions. Presentation and prognosis are usually indolent; however, they include urinary tract infec…
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