Hereditary kidney diseases

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Bibliographic Information

Hereditary kidney diseases

volume editor, A. Sessa...[et al.]

(Contributions to nephrology, v. 122)

Karger, 1997

Available at  / 3 libraries

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Includes bibliographical references and indexes

Description and Table of Contents

Description

I would recommend this slim volume for geneticists with an interest in hereditary kidney diseases who would appreciate well written and referenced, up to date papers on the specific conditions included.' Journal of Medical Genetics

Table of Contents

  • Part 1 Polycystic kidney disease: pathogenesis of autosomal dominant polycystic kidney disease - recent developments
  • autosomal recessive polycystic kidney disease
  • prevalence of hypertension according to phenotype and gender in autosomal-dominant polycystic kidney disease
  • role of renin-angiotensin-aldosterone system and of sympathetic activity in arterial hypertension associated with autosomal dominant polycystic kidney disease
  • hypertension in polycystic kidney disease types 1 and 2 and its effect on the age of onset of end-stage renal disease
  • sodium-lithium countertransport in autosomal polycystic kidney disease
  • inflammatory cytokine profile in autosomal dominant polycystic kidney disease
  • extracellular matrix abnormality may be responsible for cyst development
  • mutations and intragenic polymorphisms in the diagnosis of autosomal dominant polycystic kidney disease type 1
  • expression of protein fragments from the human PKD1 gene and production of rabbit polyclonal antibodies to the recombinant proteins
  • molecular genetic investigations in autosomal dominant polycystic kidney disease
  • oral-facial-digital syndrome type 1 coexisting with polycystic kidney disease
  • nephronophthisis-medullary cystic kidney disease complex - a report on 24 patients from 5 families with Italian ancestry. Part 2 Tuberous sclerosis complex: renal manifestations of tuberous sclerosis complex
  • the "TSC2/PKD1" contiguous gene syndrome
  • a case of Pringle-Bourneville tuberous sclerosis with renal angiomyolipomas - clinical and radiological aspects
  • tuberous sclerosis and nephrocalcinosis
  • a tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic disease
  • tuberous sclerosis complex and early-onset autosomal dominant polycystic kidney disease as a "contiguous gene" syndrome - report of a case
  • pulmonary lymphangioleiomyomatosis and tuberous sclerosis complex. Part 3 Von Hippel-Lindau disease: the kidney and Von Hippel-Lindau disease - impact of molecular genetic analysis of the VHL gene for clinical management
  • Von Hippel-Lindau (VHL) gene analysis in Italian families with VHL disease
  • planning kidney surgery in Von Hippel-Lindau disease. Part 4 Alport syndrome: Alport syndrome - clinical and genetic correlation in a type-IV collagen disease
  • clinical and molecular diagnosis in inherited kidney diseases - three examples
  • expression of alpha (IV) chains in Alport's syndrome and its correlation with ultrastructural and genetic data
  • molecular diagnosis of Alport syndrome - the experience in Siena
  • x-linked Alports syndrome with normal distribution of collagen IV alpha chains in epidermal basement membrane
  • kidney transplantation in Alport's syndrome. Part 5 Primary hyperoxaluria: primary hyperoxaluria
  • renal pathology in hyperoxaluria. (Part Contents)

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