Literature DB >> 23756992

Chronic kidney disease in an adult with propionic acidemia.

H J Vernon1, S Bagnasco, A Hamosh, C J Sperati.   

Abstract

We report an adult male with classic propionic acidemia (PA) who developed chronic kidney disease in the third decade of his life. This diagnosis was recognized by an increasing serum creatinine and confirmed by reduced glomerular filtration on a (99m)Tc-diethylenetriamine pentaacetate (DTPA) scan. Histopathology of the kidney showed moderate glomerulo- and tubulointerstitial fibrosis with very segmental mesangial IgA deposits. This is the second reported case of kidney disease in an individual with propionic acidemia possibly indicating that chronic kidney disease may be a late-stage complication of propionic acidemia. Additionally, this is the first description of the histopathology of kidney disease in an individual with propionic acidemia. As more cases emerge, the clinical course and spectrum of renal pathology in this disorder will be better defined.

Entities:  

Year:  2013        PMID： 23756992      PMCID： PMC3897802          DOI： 10.1007/8904_2013_237

Source DB:  PubMed          Journal:  JIMD Rep        ISSN： 2192-8304


  21 in total

Review 1.  Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

Authors:  L R Desviat; B Pérez; C Pérez-Cerdá; P Rodríguez-Pombo; S Clavero; M Ugarte
Journal:  Mol Genet Metab       Date:  2004 Sep-Oct       Impact factor: 4.797

Review 2.  Chronic management and health supervision of individuals with propionic acidemia.

Authors:  V Reid Sutton; Kimberly A Chapman; Andrea L Gropman; Erin MacLeod; Kathy Stagni; Marshall L Summar; Keiko Ueda; Nicholas Ah Mew; Jill Franks; Eddie Island; Dietrich Matern; Loren Peña; Brittany Smith; Tina Urv; Charles Venditti; Anupam Chakarapani
Journal:  Mol Genet Metab       Date:  2011-09-10       Impact factor: 4.797

3.  Histologic subclassification of IgA nephropathy: a clinicopathologic study of 244 cases.

Authors:  M Haas
Journal:  Am J Kidney Dis       Date:  1997-06       Impact factor: 8.860

4.  45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

Authors:  Christina Lam; Lourdes R Desviat; Celia Perez-Cerdá; Magdalena Ugarte; Bruce A Barshop; Stephen Cederbaum
Journal:  Mol Genet Metab       Date:  2011-04-22       Impact factor: 4.797

5.  Mitochondrial dysfunction in mut methylmalonic acidemia.

Authors:  Randy J Chandler; Patricia M Zerfas; Sara Shanske; Jennifer Sloan; Victoria Hoffmann; Salvatore DiMauro; Charles P Venditti
Journal:  FASEB J       Date:  2008-12-16       Impact factor: 5.191

6.  Progressive renal insufficiency in methylmalonic acidemia.

Authors:  K H Molteni; T D Oberley; J A Wolff; A L Friedman
Journal:  Pediatr Nephrol       Date:  1991-05       Impact factor: 3.714

Review 7.  Secondary IgA nephropathy.

Authors:  Shideh Pouria; Jonathan Barratt
Journal:  Semin Nephrol       Date:  2008-01       Impact factor: 5.299

8.  Neurologic outcome of propionic acidemia.

Authors:  R A Surtees; E E Matthews; J V Leonard
Journal:  Pediatr Neurol       Date:  1992 Sep-Oct       Impact factor: 3.372

9.  Late onset optic neuropathy in methylmalonic and propionic acidemia.

Authors:  Zoë R Williams; P Emmett Hurley; Ugur E Altiparmak; Steven E Feldon; Georgianne L Arnold; Eric Eggenberger; Luis J Mejico
Journal:  Am J Ophthalmol       Date:  2009-02-25       Impact factor: 5.258

Review 10.  Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges.

Authors:  Friederike Hörster; Georg F Hoffmann
Journal:  Pediatr Nephrol       Date:  2004-08-04       Impact factor: 3.714
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  8 in total

1.  Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.

Authors:  Gerarda Cappuccio; Paldeep S Atwal; Taraka R Donti; Kiki Ugarte; Nadia Merchant; William J Craigen; V Reid Sutton; Sarah H Elsea
Journal:  JIMD Rep       Date:  2016-11-30

2.  Disruption of mitochondrial functions involving mitochondrial permeability transition pore opening caused by maleic acid in rat kidney.

Authors:  Ana Cristina Roginski; Ângela Beatris Zemniaçak; Rafael Aguiar Marschner; Simone Magagnin Wajner; Rafael Teixeira Ribeiro; Moacir Wajner; Alexandre Umpierrez Amaral
Journal:  J Bioenerg Biomembr       Date:  2022-07-29       Impact factor: 3.853

Review 3.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

Review 4.  Organic acidurias in adults: late complications and management.

Authors:  Ali Tunç Tuncel; Nikolas Boy; Marina A Morath; Friederike Hörster; Ulrike Mütze; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2018-01-15       Impact factor: 4.982

5.  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

6.  Antenatal nephromegaly and propionic acidemia: a case report.

Authors:  Ségolène Bernheim; Georges Deschênes; Manuel Schiff; Isabelle Cussenot; Olivier Niel
Journal:  BMC Nephrol       Date:  2017-03-30       Impact factor: 2.388

7.  Chronic kidney disease in propionic acidemia.

Authors:  Oleg A Shchelochkov; Irini Manoli; Jennifer L Sloan; Susan Ferry; Alexandra Pass; Carol Van Ryzin; Jennifer Myles; Megan Schoenfeld; Peter McGuire; Douglas R Rosing; Mark D Levin; Jeffrey B Kopp; Charles P Venditti
Journal:  Genet Med       Date:  2019-06-28       Impact factor: 8.822

Review 8.  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
  8 in total

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