Primary alveolar hypoventilation and response to the respiratory stimulant almitrine

Antic, Nick A.; McEvoy, R. Doug

doi:10.1046/j.1445-5994.2002.00284.x

Cited by 8 publications

(5 citation statements)

References 4 publications

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“… 21 , 22 , 25 In light of unrecognized chronic respiratory failure, some patients may present with associated polycythemia. 21 , 26 , 27 Others may exhibit diaphoresis, edema, and signs of right heart failure leading to a mistaken diagnosis of congenital heart disease. In older children and adults, pulmonary hypertension and cor pulmonale are the results from unrecognized and untreated hypoxemia and hypoventilation and may be the presenting signs.…”

Section: Clinical Presentationmentioning

confidence: 99%

The genetics of congenital central hypoventilation syndrome: clinical implications

Bishara¹,

Keens²,

Perez³

2018

TACG

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Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine’s curse, is due to a mutation in the PHOX2B gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Majority of the patients have a polyalanine repeat mutation (PARM) of the PHOX2B, while a small group has non-PARM (NPARM). Knowledge of the patient’s PHOX2B gene mutation helps predict a patient’s clinical presentation and outcome and aids in anticipatory management of the respiratory and ANS dysfunction.

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Section: Clinical Presentationmentioning

confidence: 99%

The genetics of congenital central hypoventilation syndrome: clinical implications

Bishara¹,

Keens²,

Perez³

2018

TACG

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“…Several pharmacologic agents have been used to augment respiratory drive, including acetazolamide, progesterone, theophylline, and almitrine (133). The patient should be advised to exercise caution with alcohol and over-the-counter or prescription sedatives.…”

Section: Managementmentioning

confidence: 99%

Sleep Medicine in Clinical Practice

Silber¹,

Krahn²,

Morgenthaler³

2016

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“…Although there are case reports of respiratory stimulants treating alveolar hypoventilation, 90 there is no medication that effectively treats central hypoventilation syndromes.…”

Section: Chiari Malformationmentioning

confidence: 99%