An Infant with Netherton Syndrome and Persistent Pulmonary Hypertension Requiring Extracorporeal Membrane Oxygenation

Macknet, Cathy; Morkos, Ashraf; Job, Leela; Garberoglio, Maria C.; Clark, Robin D.; Macknet, K. Dale; Peverini, Ricardo

doi:10.1111/j.1525-1470.2008.00685.x

Cited by 14 publications

(4 citation statements)

References 20 publications

(22 reference statements)

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“…He carried this mutation as well as another nonsense mutation p.Y126*, who failed to thrive at the age of 6 months . The terminal mutation p.R350* carried by P32 was reported in a homozygous infant with persistent pulmonary hypertension . Relatively, P30 with homozygous mutation p.K754* suffered from later truncation of LEKTI, received a relatively better prognosis both in literature and in our case.…”

Section: Discussionsupporting

confidence: 48%

Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese

Cheng

Liang

et al. 2020

Clinical Genetics

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Inherited ichthyoses are a heterogeneous group of rare disorders related to over 40 genes. To identify underlying molecular causes in inherited ichthyosis among Chinese and to correlate genotype and phenotype, 35 probands clinically diagnosed inherited ichthyosis, except ichthyosis vulgaris and X-linked ichthyosis, were included in our study. Molecular analysis was performed using next-generation sequencing (NGS) through multi-gene panel testing targeting all ichthyosis-related genes. Genetic variants causative for the ichthyosis were identified in 32 of 35 investigated patients.In all, 43 causative mutations across 12 genes were disclosed, including 16 novel variants. Thirteen keratinopathic ichthyosis, fourteen autosomal recessive congenital ichthyosis (ARCI) including one caused by mutations in SDR9C7, and five syndromic ichthyoses were confirmed. Four probands, with presumptive ARCI, turned out to be keratinopathic ichthyosis (2), neutral lipid storage disease (1), and Sjogren-Larsson syndrome (1), respectively. Next-generation technology has been demonstrated to be an effective tool in diagnosing inherited ichthyosis constituting a diverse group of cornification disorders. Our study further expands mutation spectrum and clinical phenotype associated with inherited ichthyosis in Chinese. K E Y W O R D S Chinese, congenital ichthyosis, mutation, next-generation sequence 1 | INTRODUCTION Inherited ichthyoses are genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis with a broad spectrum of skin manifestations. 1 Inherited ichthyoses have now been scientifically divided into two groups (nonsyndromic ichthyosis and syndromic forms) and multiple subgroups. 1 Identification of molecular cause is required and very important for clinical diagnosis and prognosis, genetic counseling, prenatal genetic diagnosis, optimized treatment and drug development. 2 However, over 40 genes have been related with ichthyoses.Conventional first-generation sequencing is obviously not suitable for efficient molecular analysis. Up to date, at least four studies have been succeeded in applying next-generation sequencing (NGS) technology in molecular analysis of inherited ichthyoses. 2,3 We aimed to identify the underlying mutations in inherited ichthyoses of Chinese descent using NGS methods.

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Section: Discussionsupporting

confidence: 48%

Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese

Cheng

Liang

et al. 2020

Clinical Genetics

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“…A few cases of neonatal respiratory insufficiency and pulmonary hypertension have been described in NS. Macknet et al ( 67 ) reported an infant who received extracorporeal membrane oxygenation treatment for persistent pulmonary hypertension that was probably secondary to bronchopneumonia due to the thickness of the amniotic fluid enclosing exfoliated epidermal cells. Okulu et al ( 68 ) described a newborn who required invasive respiratory support, surfactant and bronchodilators due to respiratory insufficiency and mild pulmonary hypertension.…”

Section: Resultsmentioning

confidence: 99%

Netherton Syndrome in Children: Management and Future Perspectives

et al. 2021

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Netherton syndrome (NS) is a genetic, multisystemic disease classically distinguished by a triad of clinical manifestations: congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation. Due to the complex pathogenesis of the disease, there are no specific therapies currently accessible for patients with NS. An early diagnosis is crucial to start the correct management of these patients. A multidisciplinary approach, including specialists in immunology, allergology, and dermatology, is necessary to set up the best therapeutic pathway. We conducted a review with the aim to summarize the different therapeutic strategies currently accessible and potentially available in the future for children with NS. However, given the limited data in the literature, the best-tailored management should be decided upon the basis of the specific clinical characteristics of the patients with this rare clinical condition. Further comprehension of the pathophysiology of the disease could lead to more efficacious specific therapeutic options, which could allow a change in the natural history of NS.

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“…Macknet et al, informaron sobre el caso de un lactante con SN que fue tratado con ECMO por una hipertensión pulmonar persistente que se supuso secundaria a una bronconeumonía debido al líquido amniótico espeso, que contenía células epidérmicas exfoliadas. 4 Nuestro paciente fue intubado, recibió surfactante enseguida después de nacer y fue derivado a nuestra unidad para recibir tratamiento con ECMO. Dada la hipertensión pulmonar leve, el lactante fue tratado con terapias convencionales.…”

Section: Discussionunclassified

Síndrome de Netherton: el caso de un recién nacido con insuficiencia respiratoria

2018

Arch Argent Pediatr

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RESUMENEl síndrome de Netherton (SN) es una enfermedad autosómica recesiva, muy poco frecuente, que se caracteriza por la presencia de eritrodermia ictiosiforme congénita, anomalías capilares y manifestaciones atópicas. Este síndrome es consecuencia de una mutación recesiva en el gen SPINK5. Las manifestaciones del síndrome de SN varían considerablemente entre las personas que lo padecen. Aquí informamos el caso de un recién nacido que presentaba insuficiencia respiratoria grave, hipotermia y eritrodermia, al que se le diagnosticó SN, confirmado mediante pruebas genéticas moleculares. Palabras clave: recién nacido, síndrome de Netherton, insuficiencia respiratoria.

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An Infant with Netherton Syndrome and Persistent Pulmonary Hypertension Requiring Extracorporeal Membrane Oxygenation

Cited by 14 publications

References 20 publications

Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese

Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese

Netherton Syndrome in Children: Management and Future Perspectives

Síndrome de Netherton: el caso de un recién nacido con insuficiencia respiratoria

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