Dataset Information

Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome.

ABSTRACT: Maternal Phenylketonuria Syndrome (MPKU) can occur in infants born to mothers with PKU with poor metabolic control during pregnancy. Elevated phenylalanine (phe) acts as a teratogen to the developing fetus with consequences including intellectual disability, microcephaly, facial dysmorphism, growth retardation, and congenital heart disease. MPKU can be prevented if metabolic control is achieved by 8-10 weeks gestation. If control is not achieved, there is a significant risk for MPKU. Therefore, in women with poor metabolic control at time of pregnancy, establishing metabolic control quickly is important.Clinically, establishing metabolic control in women with PKU can present challenges. Social issues, psychological issues, and insufficient education about PKU play an important role in a patient's inability to reinstitute this challenging diet. Maintaining phe levels within a range to allow for infant growth, while preventing toxicity, is challenging, particularly for those women who no longer follow the PKU diet. Gastrostomy tube placement is an option to deliver medical formula to women who are unable to restart diet due to severe nausea or palatability issues.Here we discuss two pregnancies in which a gastrostomy tube was placed to achieve metabolic control after other measures failed to reduce phe concentrations into the recommended range. For these two pregnancies, placement of the gastrostomy tube led to improvement in phe levels with normal infant outcomes including normal growth, head circumference, and heart structure.

SUBMITTER: Schwoerer JA

PROVIDER: S-EPMC3565668 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome.

Schwoerer Jessica A Scott JA Obernolte Lisa L Van Calcar Sandra S Heighway Susan S Bankowski Heather H Williams Phillip P Rice Gregory G

JIMD reports 20120131

Maternal Phenylketonuria Syndrome (MPKU) can occur in infants born to mothers with PKU with poor metabolic control during pregnancy. Elevated phenylalanine (phe) acts as a teratogen to the developing fetus with consequences including intellectual disability, microcephaly, facial dysmorphism, growth retardation, and congenital heart disease. MPKU can be prevented if metabolic control is achieved by 8-10 weeks gestation. If control is not achieved, there is a significant risk for MPKU. Therefore, ...[more]

PMID: 23430933

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Project description:Rationale: Although gastrostomy tubes have shown to be of limited benefit in patients with advanced dementia, they continue to be used to deliver nutritional support in critically ill patients. The epidemiology and short-term outcomes are unclear. Objectives: To quantify national practice patterns and short-term outcomes of gastrostomy tube placement among the critically ill over the last two decades in the United States. Methods: Using the U.S. Agency for Healthcare and Research Quality's Healthcare Cost and Utilization Project's National Inpatient Sample, we evaluated trends in annual population-standardized rates of gastrostomy tube placement among critically ill adults from 1994 to 2014; we also quantified trends in length of stay, in-hospital mortality, and discharge location. We conducted sensitivity analyses among mechanically ventilated patients, survivors, and decedents of critical illness, and in a critically ill population excluding patients with dementia. Results: From 1994 to 2014, population-based rates of gastrostomy tube use in critically ill patients increased from 11.9 to 28.8 gastrostomies per 100,000 U.S. adults (peak in incidence in 2010), an increase of 142% (31,392-91,990 gastrostomy tubes in critically ill patients; P < 0.001). Patients receiving gastrostomy tubes during critical illness occupied a growing proportion of all gastrostomy tube placements, accounting for 19.6% of all gastrostomy tubes placed in 1994 and 50.8% in 2014. The rate of gastrostomies in critically ill patients remained roughly stable, from 2.5% of critically ill patients in 1994 to a peak of 3.7% in 2002 before declining again to 2.4% in 2014. Hospital length of stay and in-hospital mortality decreased among gastrostomy tube recipients (28.7 d to 20.5 d, P < 0.001; 25.9-11.3%, P < 0.001; respectively), whereas discharges to long-term facilities increased significantly (49.6-70.6%; P < 0.001). Sensitivity analyses among mechanically ventilated patients revealed similar increases in population-based estimates of gastrostomy tube placement. Conclusions: The incidence of gastrostomy tube placement among critically ill patients more than doubled between 1994 and 2014, with most patients being discharged to long-term care facilities. Critically ill patients are now the primary utilizer of gastrostomy tubes placed in the United States. Additional research is needed to better characterize the long-term risk and benefits of gastrostomy tube use in critically ill patients.

Project description:BackgroundInsufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Phe) limited diet in adults with PKU is challenging, we evaluated the most important dietary and psychosocial factors to gain and sustain good metabolic control in phenylketonuric women throughout pregnancy by a questionnaire survey with 38 questions concerning therapy feasibility. Among them, the key questions covered 5 essential items of PKU care as follows: General information about maternal PKU, PKU training, diet implementation, individual metabolic care, personal support. In addition, all participating PKU mothers were asked to estimate the quality of their personal metabolic control of the concluded pregnancies. 54 PKU mothers with 81 pregnancies were approached at 12 metabolic centers in Germany and Austria were included. According to metabolic control, pregnancies of PKU women were divided in two groups: group "ideal" (not more than 5% of all blood Phe concentrations during pregnancy > 360 µmol/l; n = 23) and group "suboptimal" (all others; n = 51).ResultsThe demand for support was equally distributed among groups, concerning both amount and content. Personal support by the direct social environment (partner, family and friends) ("suboptimal" 71% vs "ideal" 78%) as well as individual metabolic care by the specialized metabolic center (both groups around 60%) were rated as most important factors. The groups differed significantly with respect to the estimation of the quality of their metabolic situation (p < 0.001). Group "ideal" presented a 100% realistic self-assessment. In contrast, group "suboptimal" overestimated their metabolic control in 53% of the pregnancies. Offspring of group "suboptimal" showed clinical signs of maternal PKU-syndrome in 27%.ConclusionThe development of training programs by specialized metabolic centers for females with PKU in child bearing age is crucial, especially since those mothers at risk of giving birth to a child with maternal PKU syndrome are not aware of their suboptimal metabolic control. Such programs should provide specific awareness training for the own metabolic situation and should include partners and families.

Dataset Information

Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome.

Publications

Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome.

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