4.7 Review

X-linked adrenoleukodystrophy and primary adrenal insufficiency

Related references

Note: Only part of the references are listed.
Article Endocrinology & Metabolism

Adrenal crisis in infants and young children with adrenal insufficiency: Management and prevention

Carla Bizzarri et al.

Summary: This study summarized the clinical practice standards for adrenal crisis and investigated the prevalence of suspected/incipient adrenal crisis in children with adrenal insufficiency. The results showed that the number of adrenal crisis episodes varied among children using different treatment modalities and different age groups. Therefore, parental education and switching to parenteral hydrocortisone when necessary are essential for preventing adrenal crisis in children.

FRONTIERS IN ENDOCRINOLOGY (2023)

Review Biotechnology & Applied Microbiology

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy

Ashish O. Gupta et al.

Summary: Adrenoleukodystrophy (ALD) is a rare disorder that causes severe neuroinflammation and fatality. Historically, allogeneic hematopoietic stem cell transplantation (HSCT) has been the only therapeutic option to halt the progression of cerebral ALD. However, recent studies have explored lentiviral-based gene therapy as an alternative treatment.

EXPERT OPINION ON BIOLOGICAL THERAPY (2022)

Article Clinical Neurology

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy A Consensus-Based Approach

Marc Engelen et al.

Summary: This study aims to develop best-practice recommendations for diagnosis, clinical surveillance, and treatment of ALD. Through a consensus-based modified Delphi approach, regular monitoring, HCT treatment, and international collaboration are identified as important factors.

NEUROLOGY (2022)

Article Endocrinology & Metabolism

Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort

Donatella Capalbo et al.

Summary: This study retrospectively analyzed data from 803 children with PAI, most commonly caused by congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The main symptoms at diagnosis included fatigue, hyperpigmentation, dehydration, and hypotension.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)

Review Medicine, General & Internal

Adrenal insufficiency

Eystein S. Husebye et al.

Summary: Adrenal insufficiency can be caused by various factors such as primary adrenal disorder, adrenocorticotropic hormone deficiency, or suppression of adrenocorticotropic hormone by certain medications. Clinical features include unintentional weight loss, anorexia, hypotension, fatigue, muscle and abdominal pain, and hyponatremia. Diagnosis is often delayed due to non-specific symptoms, and patient education on managing the condition is crucial to prevent adrenal crisis.

LANCET (2021)

Article Endocrinology & Metabolism

The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration

Irene C. Huffnagel et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Article Clinical Neurology

Natural history of a cohort of ABCD1 variant female carriers

T. Schirinzi et al.

EUROPEAN JOURNAL OF NEUROLOGY (2019)

Review Endocrinology & Metabolism

Primary Adrenal Insufficiency: Managing Mineralocorticoid Replacement Therapy

Daniela Esposito et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Endocrinology & Metabolism

Clinical and Immunological Characteristics of Autoimmune Addison Disease: A Nationwide Swedish Multicenter Study

Frida Dalin et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)

Article Clinical Neurology

Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study

Christel Tran et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2017)

Article Endocrinology & Metabolism

INCREASING PREVALENCE OF ADDISON DISEASE: RESULTS FROM A NATIONWIDE STUDY

Andri Snaer Olafsson et al.

ENDOCRINE PRACTICE (2016)

Article Endocrinology & Metabolism

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

Tulay Guran et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Endocrinology & Metabolism

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline

Stefan R. Bornstein et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Endocrinology & Metabolism

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

Coleman T. Turgeon et al.

MOLECULAR GENETICS AND METABOLISM (2015)

Review Endocrinology & Metabolism

Adrenal insufficiency: review of clinical outcomes with current glucocorticoid replacement therapy

Gudmundur Johannsson et al.

CLINICAL ENDOCRINOLOGY (2015)

Review Clinical Neurology

X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment

Marc Engelen et al.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2014)

Article Endocrinology & Metabolism

Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease

Morten A. Horn et al.

CLINICAL ENDOCRINOLOGY (2013)

Review Biochemistry & Molecular Biology

X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects

Stephan Kemp et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)

Article Endocrinology & Metabolism

Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy

T. J. Stradomska et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)

Review Endocrinology & Metabolism

Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated

Parastoo Jangouk et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Article Biochemistry & Molecular Biology

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

Stephane Fourcade et al.

HUMAN MOLECULAR GENETICS (2008)

Article Medicine, General & Internal

Adrenoleukodystrophy - New approaches to a neurodegenerative disease

HW Moser et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2005)

Article Clinical Neurology

Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil

HW Moser et al.

ARCHIVES OF NEUROLOGY (2005)

Article Pediatrics

Primary adrenal insufficiency in childhood and adolescence: Advances in diagnosis and management

PJ Simm et al.

JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2004)

Article Endocrinology & Metabolism

Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry

F Valianpour et al.

MOLECULAR GENETICS AND METABOLISM (2003)

Article Endocrinology & Metabolism

Adrenoleukodystrophy: The most frequent genetic cause of Addison's disease

P Aubourg et al.

HORMONE RESEARCH (2003)