The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease

Ronghe, Milind; Barton, J. C.; Jardine, Philip; Crowne, EC; Webster, M H; Armitage, Mary; Allen, J. T.; Steward, Colin G.

doi:10.1136/adc.86.3.185

Cited by 36 publications

(18 citation statements)

References 12 publications

(10 reference statements)

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“…In previous reports from Western countries, about 15% of total patients had the Addison's disease phenotype (Bezman and Moser 1998). From 3% to 80% of idiopathic Addison's disease was caused by ALD (Kong and Jeffcoate 1994;Jorge et al 1994;Ronghe et al 2002). More attention should be paid to young patients with adrenal insufficiency.…”

Section: Discussionmentioning

confidence: 99%

Epidemiology of X-linked adrenoleukodystrophy in Japan

Takemoto¹,

Suzuki

Tamakoshi

et al. 2002

J Hum Genet

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Section: Discussionmentioning

confidence: 99%

Epidemiology of X-linked adrenoleukodystrophy in Japan

Takemoto¹,

Suzuki

Tamakoshi

et al. 2002

J Hum Genet

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“…Phenotypes vary in severity from pure Addisonian presentations without obvious CNS involvement, 49 through the insidious adult-onset form (adrenomyeloneuropathy (AMN)), adolescent and adult onset cerebral X-ALD to the rapidly dementing and fatal childhood onset cerebral form at most severe. Approximately 40% of boys with X-ALD will develop childhood cerebral disease.…”

Section: Sly Syndrome (Mps Vii)mentioning

confidence: 99%

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Peters

Steward

2003

Bone Marrow Transplant

284

178

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Summary:For the past two decades, hematopoietic cell transplantation (HCT) has been used as effective therapy for selected inherited metabolic diseases (IMD) including Hurler (MPS IH) and Maroteaux-Lamy (MPS VI) syndromes, childhood-onset cerebral X-linked adrenoleukodystrophy (X-ALD), globoid-cell leukodystrophy (GLD), metachromatic leukodystrophy (MLD), a-mannosidosis, osteopetrosis, and others. Careful pre-HCT evaluation is critical and coordinated, multidisciplinary follow-up is essential in this field of transplantation. The primary goals of HCT for these disorders have been to promote long-term survival with donor-derived engraftment and to optimize the quality of life. Guidelines for HCT and monitoring are provided; a brief overview of long-term results is also presented.

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“…Neurologic symptoms prior to the age of 3 years are rare. In more than 80 % of the patients, neurologic symptoms precede signs of adrenal insufficiency [48].…”

Section: Leukodystrophiesmentioning

confidence: 99%

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses and Leukodystrophies

Sauer

Grewal²,

Peters³

2004

Klin Padiatr

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The only effective treatment for selected metabolic diseases is a successful allogeneic hematopoietic stem cell transplantation (HCT). Best results with HCT are obtained when performed early in the course of the disease. Hence, timely identification and referral are critical. Also, early identification of affected patients during the newborn period via screening may be invaluable, particularly for the infantile onset rapidly progressive forms of diseases. Rapid availability of a donor graft is often crucial for these patients. Preliminary experience suggests that results after umbilical cord blood (UCB) transplant may be comparable to those after marrow transplants. UCB grafts have certain benefits of rapid availability and even reduced risk of GvHD. Hence, UCB transplant represents an alternative to marrow HCT. Related haploidentical HCT, possibly with very high doses of CD34+ cells, may also represent an option. However, expertise has been developed in very few transplant centers and no large reports are available of its use for patients with inherited metabolic diseases.

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The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease

Cited by 36 publications

References 12 publications

Epidemiology of X-linked adrenoleukodystrophy in Japan

Epidemiology of X-linked adrenoleukodystrophy in Japan

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses and Leukodystrophies

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