Limits...
Zellweger spectrum disorders: clinical overview and management approach.

Klouwer FC, Berendse K, Ferdinandusse S, Wanders RJ, Engelen M, Poll-The BT - Orphanet J Rare Dis (2015)

Bottom Line: Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features.A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine.There is currently no curative therapy, but supportive care is available.

View Article: PubMed Central - PubMed

Affiliation: Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, PO BOX 22660, 1105 AZ, Amsterdam, The Netherlands. f.c.klouwer@amc.uva.nl.

ABSTRACT
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine. There is currently no curative therapy, but supportive care is available. This review focuses on the management of patients with a ZSD and provides recommendations for supportive therapeutic options for all those involved in the care for ZSD patients.

Show MeSH

Related in: MedlinePlus

Schematic overview of main presenting symptoms in ZSDs per clinical group
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
getmorefigures.php?uid=PMC4666198&req=5

Fig1: Schematic overview of main presenting symptoms in ZSDs per clinical group

Mentions: Patients with a ZSD can roughly be divided into three groups according to the age of presentation: the neonatal-infantile presentation, the childhood presentation and an adolescent-adult (late) presentation [23]. An overview of the main presenting symptoms for these groups is summarized in Fig. 1. The original classification of ZS, NALD and IRD is less valuable now, especially since additional variant phenotypes suggestive for a disease spectrum have been identified. For discussing prognosis and counseling patients or families this classification may in some cases still be useful [24].Fig. 1


Zellweger spectrum disorders: clinical overview and management approach.

Klouwer FC, Berendse K, Ferdinandusse S, Wanders RJ, Engelen M, Poll-The BT - Orphanet J Rare Dis (2015)

Schematic overview of main presenting symptoms in ZSDs per clinical group
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4666198&req=5

Fig1: Schematic overview of main presenting symptoms in ZSDs per clinical group
Mentions: Patients with a ZSD can roughly be divided into three groups according to the age of presentation: the neonatal-infantile presentation, the childhood presentation and an adolescent-adult (late) presentation [23]. An overview of the main presenting symptoms for these groups is summarized in Fig. 1. The original classification of ZS, NALD and IRD is less valuable now, especially since additional variant phenotypes suggestive for a disease spectrum have been identified. For discussing prognosis and counseling patients or families this classification may in some cases still be useful [24].Fig. 1

Bottom Line: Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features.A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine.There is currently no curative therapy, but supportive care is available.

View Article: PubMed Central - PubMed

Affiliation: Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, PO BOX 22660, 1105 AZ, Amsterdam, The Netherlands. f.c.klouwer@amc.uva.nl.

ABSTRACT
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine. There is currently no curative therapy, but supportive care is available. This review focuses on the management of patients with a ZSD and provides recommendations for supportive therapeutic options for all those involved in the care for ZSD patients.

Show MeSH
Related in: MedlinePlus