Literature DB >> 718310

Familial occurrence of hyperuricemia, gout, and medullary cystic disease.

G R Thompson, J J Weiss, R T Goldman, G A Rigg.   

Abstract

We observed hyperuricemia, acute gouty arthritis, and renal medullary cystic disease in three members of a family over two generations. Two of these individuals were women who developed gout by age 20 years. Two teenage sons of one of these patients had severe hyperuricemia, which appeared due to underexcretion of uric acid. To our knowledge the occurrence of hyperuricemia, gout, and renal medullary cystic disease has not been reported previously.

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Year:  1978        PMID： 718310

Source DB:  PubMed          Journal:  Arch Intern Med        ISSN： 0003-9926


  9 in total

Review 1.  Investigation and management of gout in the young and the elderly.

Authors:  P A Dieppe
Journal:  Ann Rheum Dis       Date:  1991-04       Impact factor: 19.103

2.  Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

Authors:  T C Hart; M C Gorry; P S Hart; A S Woodard; Z Shihabi; J Sandhu; B Shirts; L Xu; H Zhu; M M Barmada; A J Bleyer
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

Review 3.  From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.

Authors:  Gopalakrishnan Venkat-Raman; Christine Gast; Anthony Marinaki; Lynnette Fairbanks
Journal:  Pediatr Nephrol       Date:  2016-02-12       Impact factor: 3.714

4.  Increased prevalence of simple renal cysts in patients with gout.

Authors:  Eduardo Massato Hasegawa; Ricardo Fuller; Maria Cristina Chammas; Filipe Martins de Mello; Claudia Goldenstein-Schainberg
Journal:  Rheumatol Int       Date:  2012-03-28       Impact factor: 2.631

5.  Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family.

Authors:  N Yokota; H Yamanaka; Y Yamamoto; S Fujimoto; T Eto; K Tanaka
Journal:  Ann Rheum Dis       Date:  1991-02       Impact factor: 19.103

Review 6.  Gout, uric acid and purine metabolism in paediatric nephrology.

Authors:  J S Cameron; F Moro; H A Simmonds
Journal:  Pediatr Nephrol       Date:  1993-02       Impact factor: 3.714

7.  Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Authors:  Kai-Uwe Eckardt; Seth L Alper; Corinne Antignac; Anthony J Bleyer; Dominique Chauveau; Karin Dahan; Constantinos Deltas; Andrew Hosking; Stanislav Kmoch; Luca Rampoldi; Michael Wiesener; Matthias T Wolf; Olivier Devuyst
Journal:  Kidney Int       Date:  2015-03-04       Impact factor: 10.612

Review 8.  New developments in the epidemiology and genetics of gout.

Authors:  Raihana Zaka; Charlene J Williams
Journal:  Curr Rheumatol Rep       Date:  2006-06       Impact factor: 4.686

9.  First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD.

Authors:  Tahereh Malakoutian; Atefeh Amouzegar; Farzaneh Vali; Mojgan Asgari; Babak Behnam
Journal:  J Mol Genet Med       Date:  2016-05-29
  9 in total

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