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Hereditary sclerosing glomerulopathy in the conorenal syndrome.

Abstract
Kidney failure is recognized to occur in association with bone malformations, yet the renal disease often is incompletely characterized. In the syndrome of cone-shaped epiphyses of the phalanges and renal failure (conorenal syndrome), the kidney disease has been previously labeled "nephronophthisis" (now termed "medullary cystic disease"). We report two siblings with the conorenal syndrome in whom longitudinal clinical study has been possible and from whom kidney biopsy specimens were obtained prior to renal failure; their renal disease is incompatible with medullary cystic disease. The variable clinical course and nephropathology of this syndrome are characterized. These results call into question the association of medullary cystic disease of the kidney with other syndromes of bone dysplasia with renal failure.
AuthorsS R Mendley, A K Poznanski, B H Spargo, C B Langman
JournalAmerican journal of kidney diseases : the official journal of the National Kidney Foundation (Am J Kidney Dis) Vol. 25 Issue 5 Pg. 792-7 (May 1995) ISSN: 0272-6386 [Print] United States
PMID7747734 (Publication Type: Case Reports, Journal Article)
Topics
  • Adult
  • Bone Diseases, Developmental (diagnostic imaging, genetics)
  • Child
  • Epiphyses (diagnostic imaging)
  • Female
  • Hand (diagnostic imaging)
  • Humans
  • Kidney (pathology)
  • Kidney Diseases (genetics, pathology)
  • Male
  • Radiography
  • Syndrome

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