Literature DB >> 7742227

Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure.

J C Nicholson1, C L Jones, H R Powell, R G Walker, D A McCredie.   

Abstract

Several disorders of hypomagnesaemia of hetary renal origin are now recognised. The cases of two sisters from a consanguineous marriage with the syndrome of renal magnesium wasting, hypercalciuria and nephrocalcinosis are presented. Pathological examination of the heterozygous parental kidneys revealed mild focal interstitial fibrosis. This condition is a previously unreported cause of end-stage renal failure in childhood, and this report suggests that transplantation from heterozygous parental donors can be successfully undertaken without recurrence of the syndrome.

Entities:  

Mesh:

Substances:

Year:  1995        PMID: 7742227     DOI: 10.1007/BF00858976

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.714


  8 in total

1.  Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. (Evaluation of the pathophysiological role of parathyroid hormone).

Authors:  M F Michelis; A L Drash; L G Linarelli; F R De Rubertis; B B Davis
Journal:  Metabolism       Date:  1972-10       Impact factor: 8.694

Review 2.  Management of primary hyperoxaluria: efficacy of oral citrate administration.

Authors:  E Leumann; B Hoppe; T Neuhaus
Journal:  Pediatr Nephrol       Date:  1993-04       Impact factor: 3.714

3.  Hypomagnesemia due to renal disease of unknown etiology.

Authors:  L Runeberg; Y Collan; E J Jokinen; J Lähdevirta; A Aro
Journal:  Am J Med       Date:  1975-12       Impact factor: 4.965

4.  The congenital "magnesium-losing kidney". Report of two patients.

Authors:  R A Evans; J N Carter; C R George; R S Walls; R C Newland; G D McDonnell; J R Lawrence
Journal:  Q J Med       Date:  1981

5.  Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings.

Authors:  F Manz; K Schärer; P Janka; J Lombeck
Journal:  Eur J Pediatr       Date:  1978-06-20       Impact factor: 3.183

Review 6.  Hypomagnesaemia of hereditary renal origin.

Authors:  J Rodríguez-Soriano; A Vallo; M García-Fuentes
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

7.  Triple immunosuppression with subsequent prednisolone withdrawal: 6 years' experience in paediatric renal allograft recipients.

Authors:  S M Chao; C L Jones; H R Powell; L Johnstone; D M Francis; G J Becker; R G Walker
Journal:  Pediatr Nephrol       Date:  1994-02       Impact factor: 3.714

8.  Severe renal osteodystrophy without elevated serum immunoreactive parathyroid hormone concentrations in hypomagnesemia due to renal magnesium wasting.

Authors:  I Zelikovic; S Dabbagh; A L Friedman; M L Goelzer; R W Chesney
Journal:  Pediatrics       Date:  1987-03       Impact factor: 7.124

  8 in total
  10 in total

Review 1.  Evaluation of urinary tract calculi in children.

Authors:  S A Hulton
Journal:  Arch Dis Child       Date:  2001-04       Impact factor: 3.791

2.  Renal failure in renal magnesium wasting: recurrence of disease in a renal transplant.

Authors:  R W Chesney; A L Friedman; I Zelikovic; S Dabbagh
Journal:  Pediatr Nephrol       Date:  1995-02       Impact factor: 3.714

3.  Paracellin-1 gene mutation with multiple congenital abnormalities.

Authors:  Mehmet Türkmen; Belde Kasap; Alper Soylu; Ece Böber; Martin Konrad; Salih Kavukçu
Journal:  Pediatr Nephrol       Date:  2006-08-22       Impact factor: 3.714

4.  Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.

Authors:  Velibor Tasic; Donco Dervisov; Svetlana Koceva; Stefanie Weber; Martin Konrad
Journal:  Pediatr Nephrol       Date:  2005-04-26       Impact factor: 3.714

Review 5.  Genetics of hereditary disorders of magnesium homeostasis.

Authors:  Karl P Schlingmann; Martin Konrad; Hannsjörg W Seyberth
Journal:  Pediatr Nephrol       Date:  2003-11-22       Impact factor: 3.714

Review 6.  Pathophysiology of hypercalciuria in children.

Authors:  Tarak Srivastava; Uri S Alon
Journal:  Pediatr Nephrol       Date:  2007-04-27       Impact factor: 3.714

Review 7.  Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Authors:  Mònica Vall-Palomar; Leire Madariaga; Gema Ariceta
Journal:  Pediatr Nephrol       Date:  2021-02-17       Impact factor: 3.714

8.  Familial mixed nephrocalcinosis as a cause of chronic kidney failure: two case reports.

Authors:  Pedro Francisco Ferraz de Arruda; Márcio Gatti; José Germano Ferraz de Arruda; Fernando Nestor Fácio; Luis Cesar Fava Spessoto; Laísa Ferraz de Arruda; José Maria Pereira de Godoy; Moacir Fernandes Godoy
Journal:  J Med Case Rep       Date:  2014-10-27

9.  A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.

Authors:  Asma Deeb; Salima Atia Abood; Job Simon; Hormazdiar Dastoor; Simon Hs Pearce; John A Sayer
Journal:  BMC Res Notes       Date:  2013-12-10

10.  Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.

Authors:  Felix Claverie-Martin
Journal:  Clin Kidney J       Date:  2015-09-01
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.