Cystic fibrosis-related diabetes screening at a large pediatric center.

OBJECTIVE: Cystic Fibrosis Foundation guidelines recommend annual diabetes screening by oral glucose tolerance test (OGTT) in pediatric patients with cystic fibrosis (CF) starting at the age of 10 years. Adherence to these guidelines proves to be challenging, and the nationwide screening rates are still considered suboptimal. The aim of this study was to assess and improve the screening rates at our large pediatric center. METHODS: A 4-year retrospective audit of OGTT completion among pediatric patients with CF of age ≥10 years who are not yet diagnosed with diabetes was conducted. A collaborative working group was formed to identify the barriers to screening and formulate a quality improvement plan, which was monitored and evaluated for a 9-month period. RESULTS: Diabetes screening rates determined by OGTT completion at our center showed a gradual decline during the COVID-19 pandemic from 2019 to 2022. Following the implementation of the quality improvement plan during the summer of 2023, there was a marked increase in OGTT ordering compliance by providers as well as test completion by patients. Notably, the fractional OGTT completion rate rose from 45% during the preintervention phase (January-April 2023) to 70% during the postintervention phase (May-September 2023). CONCLUSION: Diabetes screening in pediatric patients with CF can be effectively improved by refining practices related to patient experience, care coordination, and laboratory testing strategies.

Prevalence of malnutrition in pediatric pulmonary hypertension cohort and role for registered dietitian involvement.

Introduction: Pediatric pulmonary hypertension (PH) is a serious condition with increased risk for malnutrition due to increased caloric needs and reduced energy intake. This combination of disease and dynamic elements make it particularly challenging to meet expected growth patterns. Pediatric PH patients require close monitoring and individualized nutrition interventions to best meet nutrient needs. The prevalence of malnutrition and effective nutrition interventions in pediatric PH has not been studied. Methods: Using our electronic medical record (EMR) patient care dashboard, malnutrition prevalence was assessed by reviewing the active problem list of all active PH patients at our center. A chart review compared patients with diagnosed malnutrition in the EMR to those with malnutrition identified by a registered dietitian (RD) using a standardized tool. Chart reviews also assessed outcomes of RD interventions. Results: 195 patients were identified as active PH patients followed by our PH center during the study period (November 2021 to January 2023). Of these, 5% (10/195) had an ICD-10 code for malnutrition listed in their chart. However, upon further chart review of the remaining 185 patients, 22% (41/185) had malnutrition identified by a RD using Texas Children's Malnutrition Tool, totaling 51/195 (26%) malnourished patients. The PH RD saw 25/51 (49%) patients during PH clinic visits in the study period. At follow up visits (3-4 months after initial assessment), 56% (14/25) patients seen by the PH RD either improved or resolved their malnutrition status by z-score assessment. Conclusion: Malnutrition is present in pediatric PH, although underappreciated and underdiagnosed. Managing malnutrition in pediatric PH requires close monitoring, multidisciplinary involvement, and individualized nutrition recommendations. This is best achieved by a dedicated PH RD who is familiar with the unique needs of this population and available to provide consistent nutritional assessments and interventions to reduce malnutrition in this population.

The cascade screening in heritable forms of pulmonary arterial hypertension.

Heritable pulmonary artery hypertension (HPAH) is an increasingly recognized type of pulmonary arterial hypertension, in both pediatric and adult population. Intrinsic to hereditary disease, screening for genetic mutations within families is an important component of diagnosis and understanding burden of disease. Recently, consensus guidelines are published for genetic screening in PAH. These guidelines include recommendations for screening at diagnosis, noting individuals with presumed PAH due to familial, or idiopathic etiologies. Cascade genetic testing is specifically recommended as a testing paradigm to screen relatives for detection of mutation carriers, who may be asymptomatic. Without targeted genetic testing, familial mutation carriers may only come to attention when pulmonary vascular disease burden is high enough to cause symptoms, suggesting more advanced disease. Here, we present our collective experience with HPAH in five distinct families, specifically to report on the clinical courses of patients who were diagnosed with genetic mutation at diagnosis versus those who were offered genetic screening. In three families, asymptomatic mutation carriers were identified and monitored for clinical worsening. In two families, screening was not done and affected family members presented with advanced disease.

Corrigendum: Case report: Selexipag in pediatric pulmonary hypertension: initiation, transition, and titration.

[This corrects the article DOI: 10.3389/fped.2023.1050508.].

Case Report: Selexipag in pediatric pulmonary hypertension: Initiation, transition, and titration.

Selexipag, a selective prostacyclin receptor agonist, is approved for treating pulmonary arterial hypertension in WHO Group 1 adult patients. Compared to parenteral prostacyclin formulations, selexipag offers a significant improvement in patient's and caregiver's quality of life because of its oral formulation, frequency of administration, and mechanism of action. Although experience in the pediatric population is limited to case reports in older adolescent patients and selexipag is not approved for use in the pediatric pulmonary hypertension population, many pediatric centers are expanding the use of this therapy to this population. We report our institution's experience in the use of selexipag to treat pulmonary hypertension in children under 10 years of age, between 10 and 30 kg. Seven patients were initiated on selexipag therapy including de novo initiation and transition from intravenous treprostinil to oral selexipag. All patients were on stable background therapy with phosphodiesterase-5 inhibitor and endothelin receptor antagonist therapies at baseline. All patients reached their planned goal selexipag dose during admission without the need for changes to the titration schedule and without hemodynamic deterioration. In our experience, oral selexipag is safe and well-tolerated in young pediatric patients with pulmonary hypertension. Based on our favorable experience, we developed an institution-specific selexipag process algorithm for continued successful use in the pediatric population.

Cystic fibrosis lung transplant recipients 10 years of age or younger: Predisposing factors for end-stage disease.

BACKGROUND: The largest age group among children and adolescents referred for lung transplantation for cystic fibrosis (CF) have been those in the pubertal or postpubertal age range. However, over 100 younger patients with CF have undergone lung transplantation over the last three decades in the United States. METHODS: We performed a retrospective review of our experience with 18 children with CF who underwent lung transplantation in our center before the age of 11 years and compared them to our older CF lung transplant recipients and our larger CF Center population. RESULTS: The transplant population was demographically distinct from our CF center in terms of ethnicity, country of origin, and insurance status. Other notable findings were a high prevalence of methicillin-resistant Staphylococcus aureus, a high prevalence of CF-related diabetes mellitus, and a high prevalence of consolidated lobar or whole lung disease. Posttransplant outcomes were comparable to those older than 10 years of age in our center until 5 years after transplant after which the younger cohort showed a superior enduring survival. CONCLUSIONS: In an era of increasingly effective medications modifying the natural history of CF, identification of risk factors for early severe lung disease in CF remains relevant to permit interventions to prevent or postpone the time of future lung transplantation.

Opportunities and challenges of pharmacotherapy for pulmonary arterial hypertension in children.

Pediatric pulmonary hypertension (PAH) is a rare disease that carries a poor prognosis if left untreated. Although there are published guidelines for the treatment of children with pulmonary hypertension, due to the limited number of robust pediatric clinical trials, recommendations are often based on limited data or clinical experience. Furthermore, many practical aspects of care, particularly for the pediatric patient, are learned through experience and best navigated with a multidisciplinary team. While newer PAH therapies have been approved for adults, there is still limited but expanding experience in pediatrics. This new information will help improve the targets of goal-oriented therapy. Lastly, this review highlights practical aspects in the use of the different therapies available for the treatment of pediatric pulmonary hypertension.

Treatment of severe pulmonary hypertension in the setting of the large patent ductus arteriosus.

Treatment of the large patent ductus arteriosus (PDA) in the setting of pulmonary hypertension (PH) is challenging. Left patent, the large PDA can result in irreversible pulmonary vascular disease. Occlusion, however, may lead to right ventricular failure for certain patients with severe PH. Our center has adopted a staged management strategy using medical management, noninvasive imaging, and invasive cardiac catheterization to treat PH in the presence of a large PDA. This approach determines the safety of ductal closure but also leverages medical therapy to create an opportunity for safe PDA occlusion. We reviewed our experience with this approach. Patients with both severe PH and PDAs were studied. PH treatment history and hemodynamic data obtained during catheterizations were reviewed. Repeat catheterizations, echocardiograms, and clinical status at latest follow-up were also reviewed. Seven patients had both PH and large, unrestrictive PDAs. At baseline, all patients had near-systemic right ventricular pressures. Nine catheterizations were performed. Two patients underwent 2 catheterizations each due to poor initial response to balloon test occlusion. Six of 7 patients exhibited subsystemic pulmonary pressures during test occlusion and underwent successful PDA occlusion. One patient did not undergo PDA occlusion. In follow-up, 2 additional catheterizations were performed after successful PDA occlusion for subsequent hemodynamic assessment. At the latest follow-up, the 6 patients who underwent PDA occlusion are well, with continued improvement in PH. Five patients remain on PH treatment. A staged approach to PDA closure for patients with severe PH is an effective treatment paradigm. Aggressive treatment of PH creates a window of opportunity for PDA occlusion, echocardiography assists in identifying the timing for closure, and balloon test occlusion during cardiac catheterization is critical in determining safety of closure. By safely eliminating the large PDA, this treatment algorithm can halt the perilous combination of the large shunting from the PDA and PH in a population at high risk of morbidity and mortality.