Literature DB >> 2732989

A new syndrome of autosomal recessive nephropathy, deafness, and hyperparathyroidism.

B D Edwards1, M A Patton, S A Dilly, J B Eastwood.   

Abstract

A consanguineous Pakistani family is described in which family members developed renal failure without haematuria, parathyroid hyperplasia, and sensorineural deafness. We believe the condition to be inherited as an autosomal recessive and to be distinct from Alport's syndrome, which is an X linked condition usually associated with haematuria.

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Year:  1989        PMID: 2732989      PMCID: PMC1015593          DOI: 10.1136/jmg.26.5.289

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  11 in total

1.  NEONATAL FAMILIAL PRIMARY HYPERPARATHYROIDISM.

Authors:  D A HILLMAN; C R SCRIVER; S PEDVIS; I SHRAGOVITCH
Journal:  N Engl J Med       Date:  1964-03-05       Impact factor: 91.245

2.  Familial nephrosis associated with deafness and congenital urinary tract anomalies in siblings.

Authors:  F C BRAUN; J F BAYER
Journal:  J Pediatr       Date:  1962-01       Impact factor: 4.406

3.  Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome.

Authors:  T J MUCKLE
Journal:  Q J Med       Date:  1962-04

4.  Familial nephrosis, nerve deafness, and hypoparathyroidism.

Authors:  A Y Barakat; J B D'Albora; M M Martin; P A Jose
Journal:  J Pediatr       Date:  1977-07       Impact factor: 4.406

5.  The clinical spectrum of hereditary nephritis.

Authors:  J P Grünfeld
Journal:  Kidney Int       Date:  1985-01       Impact factor: 10.612

6.  Prolactinoma: a question of rational treatment.

Authors:  C R Edwards; C M Feek
Journal:  Br Med J (Clin Res Ed)       Date:  1981-12-12

7.  Genetic heterogeneity of Alport syndrome.

Authors:  J Feingold; E Bois; A Chompret; M Broyer; M C Gubler; J P Grünfeld
Journal:  Kidney Int       Date:  1985-04       Impact factor: 10.612

8.  Alport's syndrome. A report of 58 cases and a review of the literature.

Authors:  M Gubler; M Levy; M Broyer; C Naizot; G Gonzales; D Perrin; R Habib
Journal:  Am J Med       Date:  1981-03       Impact factor: 4.965

9.  Hereditary nephritis: a re-examination of its clinical and genetic features.

Authors:  W M O'Neill; C L Atkin; H A Bloomer
Journal:  Ann Intern Med       Date:  1978-02       Impact factor: 25.391

10.  Alport's syndrome or hereditary nephritis?

Authors:  F A Flinter; M Bobrow; C Chantler
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

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  2 in total

1.  Familial isolated parathyroid adenoma in a consanguineous family.

Authors:  C Bergwitz; B Bremer; B Soudah; B Mayr; G Brabant
Journal:  J Endocrinol Invest       Date:  2001-05       Impact factor: 4.256

2.  Primary hyperparathyroidism: an overview.

Authors:  Jessica Mackenzie-Feder; Sandra Sirrs; Donald Anderson; Jibran Sharif; Aneal Khan
Journal:  Int J Endocrinol       Date:  2011-06-02       Impact factor: 3.257

  2 in total

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