No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy

Petryk, Anna; Polgreen, Lynda E.; Chahla, Saydi; Miller, Wes P.; Orchard, Paul J.

doi:10.1038/bmt.2012.33

Cited by 21 publications

(14 citation statements)

References 8 publications

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“…The most successful outcomes to date have been achieved with the use of cells from HLA-identical, unaffected related donors [7]. Adrenal insufficiency does not resolve with successful transplant; most patients still require hormone replacement [8]. Nutritional therapy based on restriction of VLCFA intake by the child plays currently minor role.…”

Section: Discussionmentioning

confidence: 99%

X-linked adrenoleukodystrophy diagnosed in three brothers

Herman

Jura

Krakowska

et al. 2019

pedm

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Adrenoleukodystrophy is a genetic diseases classified in the group of peroxisomal disorders caused by mutations in ABCD1, gene located on the X chromosome (Xq28). It demonstrates X-linked recessive inheritance. There is an accumulation of very long-chain fatty acids (VLCFA) in plasma and all tissues in the process of ALD. No causal treatment for ALD is known, although hematopoietic stem cell transplantation (HSCT) and gene therapy are allowed for early diagnosis in childhood cerebral form. The case report describes three of the brothers suffering from ALD, diagnosed in different stages of disease. The eldest brother was diagnosed by the age of nine, with the first symptom of hearing loss. After that, test was also conducted in boy's younger brother-he was then asymptomatic, however diagnosed with ALD at age 7. The mutation in the ABCD1 gene was also detected in the mother's blood. Due to the significant severity of the disease, the eldest boy was not qualified for HSCT. Nowadays, 2 years after, the health condition of the eldest brother is severe. The middle brother underwent HSCT. Currently, the he is in a good general condition. The youngest brother had genetic testing performed shortly after birth. The mutation in the ABCD1 gene also was confirmed, but in this moment there is no regarding to HSCT. His development is adequally to age, but he has adrenal insufficiency. All of brothers are treated hydrocortisone. Parental awareness and early genetic tests (including prenatal tests) are very important because ALD is associated with severe course and high mortality, and its symptoms are non-specific.

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Section: Discussionmentioning

confidence: 99%

X-linked adrenoleukodystrophy diagnosed in three brothers

Herman

Jura

Krakowska

et al. 2019

pedm

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“…Petryk [117] found no evidence that HCST reverses PAI due to X-ALD. van Geel [118] reported that HCST did not prevent development of myelopathy in boys treated for CER in childhood: 3/5 transplanted males showed myelopathy upon examination 15-19 years post-transplantation.…”

Section: Follow-up and Treatment Of X-aldmentioning

confidence: 98%

Adrenoleukodystrophy in Norway: High Rate of De Novo Mutations and Age-Dependent Penetrance

Horn

Retterstøl

Abdelnoor

et al. 2013

Pediatric Neurology

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“…ALD has a complex clinical presentation that is progressive in nature and cannot be predicted by genotype [63,64]. Nearly all males with ALD will develop adrenal insufficiency, although the timing is variable [65,66]. Adrenal insufficiency (recognized or clinically silent) often precedes neurologic symptoms [8].…”

Section: Disease-specific Considerations Adrenoleukodystrophymentioning

confidence: 99%

“…Stress dosed replacement therapy should be provided during cytoreduction and the immediate post-HSCT period [66]. HSCT does not correct adrenal insufficiency [65]; thus, patients with adrenal insufficiency will need lifelong replacement and stress dosed treatment as indicated.…”

Section: Recommendationsmentioning

confidence: 99%

Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network

Page

Stenger

Connelly

et al. 2019

Biology of Blood and Marrow Transplantation

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The leukodystrophies are a heterogeneous group of inherited diseases characterized by progressive demyelination of the central nervous system leading to devastating neurologic symptoms and premature death. Hematopoietic stem cell transplantation (HSCT) has been successfully used to treat certain leukodystrophies, including adrenoleukodystrophy, globoid leukodystrophy (Krabbe disease), and metachromatic leukodystrophy, over the past 30 years. To date, these complex patients have primarily been transplanted at a limited number of pediatric centers. As the number of cases identified through pregnancy and newborn screening is increasing, additional centers will be required to treat these children. Hunter's Hope created the Leukodystrophy Care Network in part to create and standardize high-quality clinical practice guidelines to guide the care of affected patients. In this report the clinical guidelines for the care of pediatric patients with leukodystrophies undergoing treatment with HSCT are presented. The initial transplant evaluation, determination of patient eligibility, donor selection, conditioning, supportive care, and post-transplant follow-up are discussed. Throughout these guidelines the need for early detection and treatment and the role of the partnership between families and multidisciplinary providers are emphasized.

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No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy

Cited by 21 publications

References 8 publications

X-linked adrenoleukodystrophy diagnosed in three brothers

X-linked adrenoleukodystrophy diagnosed in three brothers

Adrenoleukodystrophy in Norway: High Rate of De Novo Mutations and Age-Dependent Penetrance

Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network

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