Literature DB >> 33985978

Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease.

Majdi Hamadeh1,2, Khalil Nasrallah1,2, Zeinab Ajami1,2, Rahil Zeaiter1,2, Layan Abbas1,2, Samih Hamadeh3, Jawad Fares4.   

Abstract

McArdle disease, also known as glycogen storage disease type V, is an autosomal recessive disease due to the absence of myophosphorylase activity, leading to the complete disruption of glycogen breakdown in muscles. We present a rare case of a Caucasian male, aged 26 years, who developed rhabdomyolysis-induced acute renal failure and uremic encephalopathy. Neurological examination and histopathological studies supported the diagnosis of McArdle disease. The severity of his symptoms necessitated urgent hemodialysis, upon which the patient reported improvement in status. Acute renal failure in McArdle disease usually resolves with supportive treatment and maintenance of regular physical activity. Nevertheless, in more severe cases, intensive care with urgent hemodialysis may be needed. A multidisciplinary approach is necessary for the adequate management of similar cases.
© 2021 Marshfield Clinic Health System.

Entities:  

Keywords:  Acute renal failure; Glycogen storage disease; McArdle Disease; Neurology; Rhabdomyolysis

Year:  2021        PMID: 33985978      PMCID: PMC8231694          DOI: 10.3121/cmr.2021.1641

Source DB:  PubMed          Journal:  Clin Med Res        ISSN: 1539-4182


  10 in total

1.  The effect of oral sucrose on exercise tolerance in patients with McArdle's disease.

Authors:  John Vissing; Ronald G Haller
Journal:  N Engl J Med       Date:  2003-12-25       Impact factor: 91.245

2.  McArdle disease: a "pediatric" disorder presenting in an adult with acute kidney injury.

Authors:  Xixi Zhao; Angela Li; Madhu Soni; Michael J Muriello; Carolyn H Jones; William L Whittier
Journal:  CEN Case Rep       Date:  2017-06-28

3.  Rhabdomyolysis With Acute Renal Failure Requiring Dialysis in McArdle Disease: A Role for the Antidepressant Venlafaxine?

Authors:  Stéphane Torner; Claire Tinel; Zaara Soltani; Gérard Rifle; Christiane Mousson
Journal:  J Clin Psychopharmacol       Date:  2016-08       Impact factor: 3.153

4.  Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis.

Authors:  Ayaka Satoh; Shuma Hirashio; Takahiro Arima; Yumi Yamada; Taisuke Irifuku; Haruka Ishibashi; Atsuko Motoda; Yoshimasa Sueda; Takao Masaki
Journal:  CEN Case Rep       Date:  2019-03-21

Review 5.  Myophosphorylase deficiency (glycogenosis type V; McArdle disease).

Authors:  S Dimaur; A L Andreu; C Bruno; G M Hadjigeorgiou
Journal:  Curr Mol Med       Date:  2002-03       Impact factor: 2.222

6.  Wave of renal impairment.

Authors:  Helena Pinto; Ana Catarina Teixeira; Nuno Oliveira; Rui Alves
Journal:  BMJ Case Rep       Date:  2018-02-01

7.  McArdle disease presenting as acute renal failure.

Authors:  Jayasree Pillarisetti; Awad Ahmed
Journal:  South Med J       Date:  2007-03       Impact factor: 0.954

Review 8.  Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

Authors:  Gisela Nogales-Gadea; Alfredo Santalla; Alfonsina Ballester-Lopez; Joaquín Arenas; Miguel Angel Martín; Richard Godfrey; Tomàs Pinós; Guillem Pintos-Morell; Jaume Coll-Cantí; Alejandro Lucia
Journal:  Med Sci Sports Exerc       Date:  2016-04       Impact factor: 5.411

9.  McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients.

Authors:  Pushpa Raj Joshi; Marcus Deschauer; Stephan Zierz
Journal:  Biomedicines       Date:  2020-02-15

10.  McArdle Disease and Exercise Physiology.

Authors:  Yu Kitaoka
Journal:  Biology (Basel)       Date:  2014-02-25
  10 in total

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