X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers

Lourenço, Charles Marques; Simão, Gustavo Novelino; Santos, Antônio Carlos dos; Marques, Wilson

doi:10.1590/s0004-282x2012000700003

Cited by 14 publications

(7 citation statements)

References 15 publications

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“…However, based on clinical experience with several X-linked disorders, it becomes clear that this concept needs revision 5 . The paper written by Lourenço et al 8 explores this issue in the context of an X-linked recessive disorder, adrenoleukodystrophy, in which heterozygous females were previously believed to be clinically unaffected or to have a very mild phenotype 9 . This would be expected since in an X-linked recessive inheritance: males are predominantly affected; all their phenotypic healthy daughters are heterozygous; the mother of an affected male is heterozygous; among sons of heterozygous women, there is a 1:1 ratio between affected and unaffected; and one would only observe affected females if these were homozygous for the recessive allele 10 .…”

Section: Do We Need a New Look In The Definition Of X-linked Recessivmentioning

confidence: 99%

Do we need a new look in the definition of X-linked recessive disorders?

Lopes-Cendes

2012

Arq. Neuro-Psiquiatr.

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Section: Do We Need a New Look In The Definition Of X-linked Recessivmentioning

confidence: 99%

Do we need a new look in the definition of X-linked recessive disorders?

Lopes-Cendes

2012

Arq. Neuro-Psiquiatr.

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“…While X‐ALD predominantly affects males with an incidence of 1:20 000‐30 000, disease development in females that are heterozygotes for X‐ALD (symptomatic carriers) occurs and is under‐recognized . Female carriers may develop myeloneuropathy and cerebral disease with a wide spectrum of severity (from mild to severe), although at a rare frequency . Adrenal insufficiency is very rare in carriers (<1%) …”

Section: Introductionmentioning

confidence: 99%

“…5 Female carriers may develop myeloneuropathy and cerebral disease with a wide spectrum of severity (from mild to severe), although at a rare frequency. 6 Adrenal insufficiency is very rare in carriers (<1%). 5,7 While X-ALD is categorized under the umbrella term "peroxisomal disorders," it belongs to the subgroup of peroxisome enzyme defects, which also include acyl-CoA oxidase deficiency, and classic/adult Refsum disease.…”

Section: Introductionmentioning

confidence: 99%

Anesthetic management of pediatric patients diagnosed with X‐linked adrenoleukodystrophy: A single‐center experience

Kloesel

Dua

Eskuri

et al. 2019

Pediatric Anesthesia

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Background X‐linked adrenoleukodystrophy is a progressive demyelinating disease that primarily affects males with an incidence of 1:20 000‐30 000. The disease has a wide spectrum of phenotypic expression and may include adrenal insufficiency, cerebral X‐linked adrenoleukodystrophy and adrenomyeloneuropathy. The condition has implications for the administration of anesthesia and reports of anesthetic management in those patients are limited at this point. Aim To review the perioperative care, complications and outcomes of patients diagnosed with X‐linked adrenoleukodystrophy at the University of Minnesota Masonic Children's Hospital. Method After obtaining IRB approval, we performed a retrospective chart review of pediatric patients diagnosed with X‐linked adrenoleukodystrophy who underwent either surgery or diagnostic/therapeutic procedures that included anesthesia services between January 2014 and December 2016. Data included demographics, American Society of Anesthesiologists classification, preoperative diagnosis, history of hematopoietic stem cell transplant, anesthetic approaches, airway management, medications used, intra‐ and postoperative complications, and patient disposition. Results We identified 38 patients who had a total of 166 anesthetic encounters. The majority of patients underwent procedures in the sedation unit (75.9%) and received a total intravenous anesthetic with spontaneous ventilation via a natural airway (86.1%). Preoperative adrenal insufficiency was documented in 87.3% of the encounters. Stress‐dose steroids were administered in 70.5% of the performed anesthetics. A variety of anesthetic agents were successfully used including sevoflurane, isoflurane, propofol, midazolam, ketamine, and dexmedetomidine. There were few perioperative complications noted (6.6%) and the majority were of low severity. No anesthesia‐related mortality was observed. Conclusions With the availability of skilled pediatric anesthesia care, children with X‐linked adrenoleukodystrophy can undergo procedures under anesthesia in sedation units and regular operating rooms with low overall anesthesia risk.

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“…AMN has an X-linked pattern of inheritance and typically affects males. Female X-ALD carriers are either asymptomatic or may develop a milder, more slowly progressive neurological disability (O'Neill et al 1984;Jangouk et al 2012;Lourenco et al 2012).…”

Section: Introductionmentioning

confidence: 99%

Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy

et al. 2015

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Background: X-linked adrenoleukodystrophy (X-ALD) is a disorder caused by mutations in the ABCD1 gene. The commonest phenotype of X-ALD is adrenomyeloneuropathy (AMN), which is characterised by involvement of the spinal cord and peripheral nerves. The aim of this study was to evaluate bladder and bowel symptoms in men with AMN and female X-ALD carriers.Methods: In this cross-sectional study, patients with confirmed mutation of the ABCD1 gene attending a tertiary care service were approached about bladder and bowel complaints and completed the Urinary Symptom Profile (USP), Qualiveen Short Form (SF-Qualiveen), International Prostate Symptom Score (IPSS) and Neurogenic Bowel Dysfunction (NBD) questionnaires. Neurological disability was assessed using the Expanded Disability Status Scale (EDSS).Results: Forty-eight patients participated, 19 males (mean EDSS score (n ¼ 16) 5.0 (95% CI AE 1.03)) and 29 females (mean EDSS score (n ¼ 25) 3.2 (95% CI AE 0.98)). Overactive bladder (OAB) symptoms were reported in both males (100%, n ¼ 19) and females (86.2%, n ¼ 25). There was no significant gender difference in severity of OAB symptoms (P ¼ 0.35) and impact on quality of life (P ¼ 0.13). Furthermore, there was no significant difference in OAB severity when symptoms were compared between female carriers and a cohort of women (n ¼ 17) with spinal cord damage due to multiple sclerosis (P ¼ 0.27). Twentyone percent (n ¼ 4) of males and 10% (n ¼ 3) of females had moderate to severe bowel dysfunction.Conclusions: Bladder and bowel complaints are common in both men with AMN and female carriers. They have a significant impact on the quality of life yet are underreported and under-treated. Though having an X-linked pattern of inheritance, female carriers may experience overactive bladder symptoms which are as severe as in male patients and are likely to be neurological in origin.

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X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers

Cited by 14 publications

References 15 publications

Do we need a new look in the definition of X-linked recessive disorders?

Do we need a new look in the definition of X-linked recessive disorders?

Anesthetic management of pediatric patients diagnosed with X‐linked adrenoleukodystrophy: A single‐center experience

Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy

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