Literature DB >> 3436090

Isolated autosomal recessive renal magnesium loss in two sisters.

W B Geven1, L A Monnens, J L Willems, W Buijs, C J Hamel.   

Abstract

A familial autosomal recessive form of isolated renal magnesium loss is presented. Two children in this family suffered from convulsions unrelated to hypomagnesemia. Magnesium infusion studies revealed a lowered threshold but a normal tubular maximum for magnesium. In contrast to two families with the autosomal dominant form of isolated renal magnesium wasting, the calcium excretion in the urine was normal.

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Year:  1987        PMID: 3436090     DOI: 10.1111/j.1399-0004.1987.tb03157.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  7 in total

1.  Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.

Authors:  Wouter M Tiel Groenestege; Stéphanie Thébault; Jenny van der Wijst; Dennis van den Berg; Rob Janssen; Sabine Tejpar; Lambertus P van den Heuvel; Eric van Cutsem; Joost G Hoenderop; Nine V Knoers; René J Bindels
Journal:  J Clin Invest       Date:  2007-08       Impact factor: 14.808

Review 2.  Inherited and acquired disorders of magnesium homeostasis.

Authors:  Matthias Tilmann Florian Wolf
Journal:  Curr Opin Pediatr       Date:  2017-04       Impact factor: 2.856

Review 3.  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

4.  Hereditary isolated renal magnesium loss maps to chromosome 11q23.

Authors:  I C Meij; K Saar; L P van den Heuvel; G Nuernberg; M Vollmer; F Hildebrandt; A Reis; L A Monnens; N V Knoers
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

Review 5.  Genetics of Magnesium Disorders.

Authors:  Heng Li; Shiren Sun; Jianghua Chen; Goushuang Xu; Hanmin Wang; Qi Qian
Journal:  Kidney Dis (Basel)       Date:  2017-07-05

6.  Hereditary kidney diseases associated with hypomagnesemia.

Authors:  Felix Claverie-Martin; Ana Perdomo-Ramirez; Victor Garcia-Nieto
Journal:  Kidney Res Clin Pract       Date:  2021-11-12

Review 7.  Inherited forms of renal hypomagnesemia: an update.

Authors:  Nine V A M Knoers
Journal:  Pediatr Nephrol       Date:  2008-09-26       Impact factor: 3.651

  7 in total

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