Nonketotic Hyperglycinemia Presenting as Pulmonary Hypertensive Vascular Disease and Fatal Pulmonary Edema in Response to Pulmonary Vasodilator Therapy

Suso, Juan José Menéndez; Marín, M.J. del Cerro; Martínez-Romillo, Paloma Dorao; Lera, Carlos Labrandero de; García-Moya, L. Fernández; González, José Ignacio Rodríguez

doi:10.1016/j.jpeds.2012.04.044

Cited by 18 publications

(4 citation statements)

References 10 publications

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“…Several cases of transient PAH that resolved after discontinuation of diazoxide have been described in the literature, suggesting that hyperinsulinaemic and hypoglycaemic neonates treated with diazoxide require echocardiographic surveillance [16]. The US Food and Drug Administration (FDA) issued a warning about diazoxide and PAH in neonates in 2015 [17].…”

Section: Updates In Paediatric Ph Epidemiology and Classificationmentioning

confidence: 99%

Paediatric pulmonary arterial hypertension: updates on definition, classification, diagnostics and management

et al. 2019

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Paediatric pulmonary arterial hypertension (PAH) shares common features of adult disease, but is associated with several additional disorders and challenges that require unique approaches. This article discusses recent advances, ongoing challenges and distinct approaches for the care of children with PAH, as presented by the Paediatric Task Force of the 6th World Symposium on Pulmonary Hypertension. We provide updates of the current definition, epidemiology, classification, diagnostics and treatment of paediatric PAH, and identify critical knowledge gaps. Several features of paediatric PAH including the prominence of neonatal PAH, especially in pre-term infants with developmental lung diseases, and novel genetic causes of paediatric PAH are highlighted. The use of cardiac catheterisation as a diagnostic modality and haemodynamic definitions of PAH, including acute vasoreactivity, are addressed. Updates are provided on issues related to utility of the previous classification system to reflect paediatric-specific aetiologies and approaches to medical and interventional management of PAH, including the Potts shunt. Although a lack of clinical trial data for the use of PAH-targeted therapy persists, emerging data are improving the identification of appropriate targets for goal-oriented therapy in children. Such data will likely improve future clinical trial design to enhance outcomes in paediatric PAH.

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Section: Updates In Paediatric Ph Epidemiology and Classificationmentioning

confidence: 99%

Paediatric pulmonary arterial hypertension: updates on definition, classification, diagnostics and management

et al. 2019

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“…The proper identification of some of these genes could allow us to use specific treatments that potentially improve prognosis (as in the case of Cobalamin C deficiency), result in a redirection of care ( NFU mitochondrial disease), or even in the consideration of an early Potts shunt or lung transplantation (in cases of FOXF1 variants). Mitochondrial diseases, inborn errors of metabolism, neurodevelopmental disorders, and glycogen storage diseases (GSD), such as those caused by NFU1 , Cobalamin C (CblC) disease, MECP2 variants, or GBE1 , respectively, should be covered by the genetic techniques used in childhood-onset cases of PAH [ 28 , 29 , 30 , 31 , 32 ]. Of relevance, although PH has been described in multiple cases of GSD type 1 or type 2 [ 33 , 34 ], as far as we know we describe here for the first time the association of PH in a newborn with a genetic variant in GBE1 , diagnostic of a GSD type 4.…”

Section: Discussionmentioning

confidence: 99%

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

Cruz‐Utrilla

Gallego

Tenorio

et al. 2022

IJMS

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Background: Pulmonary arterial hypertension (PAH) is a severe and rare disease with an important genetic background. The influence of genetic testing in the clinical classification of pediatric PAH is not well known and genetics could influence management and prognosis. Objectives: The aim of this work was to identify the molecular fingerprint of PH children in the REgistro de pacientes con HIpertensión Pulmonar PEDiátrica (REHIPED), and to investigate if genetics could have an impact in clinical reclassification and prognosis. Methods: We included pediatric patients with a genetic analysis from REHIPED. From 2011 onward, successive genetic techniques have been carried out. Before genetic diagnosis, patients were classified according to their clinical and hemodynamic data in five groups. After genetic analysis, the patients were reclassified. The impact of genetics in survival free of lung transplantation was estimated by Kaplan–Meier curves. Results: Ninety-eight patients were included for the analysis. Before the genetic diagnoses, there were idiopathic PAH forms in 53.1%, PAH associated with congenital heart disease in 30.6%, pulmonary veno-occlusive disease—PVOD—in 6.1%, familial PAH in 5.1%, and associated forms with multisystemic disorders—MSD—in 5.1% of the patients. Pathogenic or likely pathogenic variants were found in 44 patients (44.9%). After a genetic analysis, 28.6% of the cohort was “reclassified”, with the groups of heritable PAH, heritable PVOD, TBX4, and MSD increasing up to 18.4%, 8.2%, 4.1%, and 12.2%, respectively. The MSD forms had the worst survival rates, followed by PVOD. Conclusions: Genetic testing changed the clinical classification of a significant proportion of patients. This reclassification showed relevant prognostic implications.

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“…Therefore, an appropriate metabolic assessment should be performed in all patients with an unexplained PHVD background. This is especially important when a pneumothorax develops after vasodilatation, even without accompanying neurological symptoms [ 46 ].…”

Section: Complications and Multidisciplinary Carementioning

confidence: 99%

Nonketotic Hyperglycinemia: Insight into Current Therapies

Nowak

Chuchra

Paprocka

2022

JCM

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Nonketotic hyperglycinemia (NKH) is a rare inborn error of glycine metabolism that is characterized by the accumulation of glycine in all tissues, especially in the central nervous system (CNS). Based on clinical outcomes, NKH can be divided into two forms, i.e., severe and attenuated NKH. A poor prognosis, including no developmental progress and intractable epilepsy, is typical of severe NKH, whereas patients with the attenuated form present with varied symptoms and neurodevelopmental outcomes. So far, no causal treatment of NKH is known. Currently, the therapy is based on sodium benzoate and NMDA (The N-methyl-D-aspartate receptor) receptor site antagonists (dextromethorphan, ketamine). Different clinical outcomes of the therapy raise doubts about the effectiveness of the treatment. The purpose of this review is to summarize the therapeutic potential, challenges and effectiveness of different NKH therapies.

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Nonketotic Hyperglycinemia Presenting as Pulmonary Hypertensive Vascular Disease and Fatal Pulmonary Edema in Response to Pulmonary Vasodilator Therapy

Cited by 18 publications

References 10 publications

Paediatric pulmonary arterial hypertension: updates on definition, classification, diagnostics and management

Paediatric pulmonary arterial hypertension: updates on definition, classification, diagnostics and management

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

Nonketotic Hyperglycinemia: Insight into Current Therapies

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