Literature DB >> 2279506

Type 4 renal tubular acidosis (subtype 2) in a patient with methylmalonic acidaemia.

T Ohura1, M Kikuchi, D Abukawa, H Hanamizu, J Aikawa, K Narisawa, K Tada, H Yunoki.   

Abstract

A 10-month-old male infant with vitamin B12 non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.

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Year:  1990        PMID： 2279506     DOI： 10.1007/bf02072052

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  16 in total

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Journal:  Kidney Int       Date:  1981-12       Impact factor: 10.612

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Journal:  Nihon Naibunpi Gakkai Zasshi       Date:  1979-09-20

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Journal:  Can Med Assoc J       Date:  1979-05-19       Impact factor: 8.262

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Authors:  V G Oberholzer; B Levin; E A Burgess; W F Young
Journal:  Arch Dis Child       Date:  1967-10       Impact factor: 3.791

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Authors:  D Batlle; M Grupp; M Gaviria; N A Kurtzman
Journal:  Am J Med       Date:  1982-05       Impact factor: 4.965
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  6 in total

Review 1.  Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.

Authors:  Marina A Morath; Friederike Hörster; Sven W Sauer
Journal:  Pediatr Nephrol       Date:  2012-07-20       Impact factor: 3.714

Review 2.  Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach.

Authors:  M A Morath; J G Okun; I B Müller; S W Sauer; F Hörster; G F Hoffmann; S Kölker
Journal:  J Inherit Metab Dis       Date:  2007-09-12       Impact factor: 4.982

3.  Long-term renal outcome in methylmalonic acidemia in adolescents and adults.

Authors:  Myriam Dao; Jean-Baptiste Arnoux; Frank Bienaimé; Anaïs Brassier; François Brazier; Jean-François Benoist; Clément Pontoizeau; Chris Ottolenghi; Pauline Krug; Olivia Boyer; Pascale de Lonlay; Aude Servais
Journal:  Orphanet J Rare Dis       Date:  2021-05-13       Impact factor: 4.123

4.  Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Authors:  Patrick Forny; Friederike Hörster; Diana Ballhausen; Anupam Chakrapani; Kimberly A Chapman; Carlo Dionisi-Vici; Marjorie Dixon; Sarah C Grünert; Stephanie Grunewald; Goknur Haliloglu; Michel Hochuli; Tomas Honzik; Daniela Karall; Diego Martinelli; Femke Molema; Jörn Oliver Sass; Sabine Scholl-Bürgi; Galit Tal; Monique Williams; Martina Huemer; Matthias R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2021-03-09       Impact factor: 4.750

5.  Renal Involvement in Methylmalonic Aciduria.

Authors:  Ahmed M Alkhunaizi; Nouriya Al-Sannaa
Journal:  Kidney Int Rep       Date:  2017-04-28

Review 6.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Authors:  Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani
Journal:  Orphanet J Rare Dis       Date:  2014-09-02       Impact factor: 4.123
  6 in total

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