Literature DB >> 19048296

Peritoneal dialysis for chronic renal failure in a patient with methylmalonic acidaemia.

Bemigho Etuwewe1, Caroline A Jones, Shipra Mathur, Katherine P Wright, Andrew A M Morris.   

Abstract

Chronic renal failure is a common complication of methylmalonic acidaemia (MMA). It is usually managed with haemodialysis and renal transplantation. We report the use of continuous cycling peritoneal dialysis (CCPD) for 20 months in a paediatric patient with chronic renal failure due to MMA. This procedure resulted in the elimination of 950 micromol methylmalonate (MM) per day and a fall in the plasma MM concentration from 3.9 to 0.74 mmol/l. As a result of this treatment, the frequency at which this patient was hospitalised was markedly reduced prior to a successful renal transplantation.

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Year:  2008        PMID: 19048296     DOI: 10.1007/s00467-008-1068-7

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


  10 in total

1.  Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria.

Authors:  Claus Peter Schmitt; Otto Mehls; Friedrich K Trefz; Friederike Hörster; T Lutz Weber; Stefan Kölker
Journal:  Pediatr Nephrol       Date:  2004-07-16       Impact factor: 3.714

2.  Successful dialysis in a boy with methylmalonic acidemia.

Authors:  Kyung Hoon Paik; Ji Eun Lee; Dong-Kyu Jin
Journal:  Pediatr Nephrol       Date:  2004-02-21       Impact factor: 3.714

3.  Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.

Authors:  G Touati; V Valayannopoulos; K Mention; P de Lonlay; P Jouvet; E Depondt; M Assoun; J C Souberbielle; D Rabier; H Ogier de Baulny; J-M Saudubray
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

4.  Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Authors:  Friederike Hörster; Matthias R Baumgartner; Caroline Viardot; Terttu Suormala; Peter Burgard; Brian Fowler; Georg F Hoffmann; Sven F Garbade; Stefan Kölker; E Regula Baumgartner
Journal:  Pediatr Res       Date:  2007-08       Impact factor: 3.756

5.  Combined liver-kidney transplantation in methylmalonic acidemia.

Authors:  W G van 't Hoff; M Dixon; J Taylor; P Mistry; K Rolles; L Rees; J V Leonard
Journal:  J Pediatr       Date:  1998-06       Impact factor: 4.406

6.  Chronic renal failure in methylmalonic acidaemia.

Authors:  J H Walter; A Michalski; W M Wilson; J V Leonard; T M Barratt; M J Dillon
Journal:  Eur J Pediatr       Date:  1989-01       Impact factor: 3.183

7.  Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure.

Authors:  R Lubrano; P Scoppi; P Barsotti; E Travasso; S Scateni; S Cristaldi; M A Castello
Journal:  Pediatr Nephrol       Date:  2001-11       Impact factor: 3.714

8.  Renal tubular dysfunction in methylmalonic acidaemia.

Authors:  C T D'Angio; M J Dillon; J V Leonard
Journal:  Eur J Pediatr       Date:  1991-02       Impact factor: 3.183

Review 9.  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

10.  Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia.

Authors:  I Harting; A Seitz; S Geb; T Zwickler; L Porto; M Lindner; S Kölker; F Hörster
Journal:  J Inherit Metab Dis       Date:  2008-05-09       Impact factor: 4.750

  10 in total
  2 in total

1.  A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.

Authors:  Hilary J Vernon; C John Sperati; Joshua D King; Andrea Poretti; Neil R Miller; Jennifer L Sloan; Andrew M Cameron; Donna Myers; Charles P Venditti; David Valle
Journal:  J Inherit Metab Dis       Date:  2014-06-25       Impact factor: 4.982

Review 2.  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

  2 in total

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