Literature DB >> 9366116

[Hereditary kidney diseases in adults].

J P Grünfeld1, D Joly.   

Abstract

Inherited kidney diseases are frequently encountered in adults; the diagnosis is often made and they usually progress to renal failure at this age. Autosomal dominant polycystic kidney disease is the most prevalent. It is one of the most common inherited diseases, involving 1 in 400 to 1,000 individuals. Renal cysts growth is responsible for hypertension and renal failure; polycystic kidney disease represents 6 to 7% of the causes of end-stage renal failure in adults. The disease also encompasses extra-renal localisations, i.e. liver cysts and intra-cranial aneurysms. Multiple renal cysts may be found in other inherited disorders, such as tuberons sclerosis and von Hippel-Lindau disease. Alport syndrome is the second most prevalent inherited kidney disease, characterized by various abnormalities of type IV collagen molecules. Molecular diagnosis is possible in some families, which makes genetic counselling more reliable. Finally renal involvement is frequent in a great variety of inherited metabolic (Fabry's disease, glycogen storage disease type 1, hyperuricemic nephropathy) or non-metabolic (nail-patella or Bardet-Biedl syndrome) diseases.

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Year:  1997        PMID: 9366116

Source DB:  PubMed          Journal:  Rev Prat        ISSN: 0035-2640


  4 in total

1.  Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members.

Authors:  Judy Savige
Journal:  Pediatr Nephrol       Date:  2018-11-30       Impact factor: 3.714

Review 2.  Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Authors:  Judy Savige; Francesca Ariani; Francesca Mari; Mirella Bruttini; Alessandra Renieri; Oliver Gross; Constantinos Deltas; Frances Flinter; Jie Ding; Daniel P Gale; Mato Nagel; Michael Yau; Lev Shagam; Roser Torra; Elisabet Ars; Julia Hoefele; Guido Garosi; Helen Storey
Journal:  Pediatr Nephrol       Date:  2018-07-09       Impact factor: 3.714

Review 3.  Genotype-Phenotype Correlations for Pathogenic COL4A3-COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome.

Authors:  Judy Savige; Mary Huang; Marina Shenelli Croos Dabrera; Krushnam Shukla; Joel Gibson
Journal:  Front Med (Lausanne)       Date:  2022-05-06

4.  X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

Authors:  Judith Savige; Helen Storey; Hae Il Cheong; Hee Gyung Kang; Eujin Park; Pascale Hilbert; Anton Persikov; Carmen Torres-Fernandez; Elisabet Ars; Roser Torra; Jens Michael Hertz; Mads Thomassen; Lev Shagam; Dongmao Wang; Yanyan Wang; Frances Flinter; Mato Nagel
Journal:  PLoS One       Date:  2016-09-14       Impact factor: 3.240

  4 in total

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