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Pediatric Nephrology

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01-02-2020 | Metabolic Acidosis | Clinical Quiz

An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers

Authors: Minh Dien Duong, Chelsi M. Rose, Kimberly J. Reidy, Marcela Del Rio

Published in: Pediatric Nephrology | Issue 2/2020

Excerpt

The presence of tubular and glomerular proteinuria entails a poor prognosis from the renal standpoints.

A renal biopsy can be complicated by profuse bleeding due to abnormal platelet function and morphology.

This patient was treated with potassium citrate and enalapril for the metabolic acidosis and proteinuria, respectively.

…

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Cullianne AR, Straatman-Iwanowska A, Seo JK et al (2009) Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. Hum Mutat 30(2):E330–E337CrossRef

Zhou Y, Zhang J (2014) Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. Ital J Pediatr 40:77CrossRef

Smith H, Galmes R, Gogolina E et al (2018) Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Hum Mutat 33(12):1656–1664CrossRef

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Title: An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers
Authors: Minh Dien Duong
Chelsi M. Rose
Kimberly J. Reidy
Marcela Del Rio
Publication date: 01-02-2020
Publisher: Springer Berlin Heidelberg
Keywords: Metabolic Acidosis
Acidosis
Ichthyosis
Published in: Pediatric Nephrology / Issue 2/2020
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-019-04338-z

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An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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