IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disorders
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Merve Koç Yekedüz
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Engin Köse
Abstract
Objectives
The childhood mortality rate for IMDs is approximately 25 % in populations with no expanded newborn screening program. Although the factors that increase mortality risk are known, an index predicting long-term survival has yet to be established.
Methods
Two hundred sixty patients who were hospitalized during the first month of their life were screened, and 94 patients diagnosed with IMDs were included in the study. Clinical and laboratory data were assessed to identify any independent prognostic factors for overall survival.
Results
Among the 38 patients with IMDs in the exitus group, the presence of dysmorphism, extremity abnormalities, respiratory distress, cyanosis, elevated transaminases, elevated INR, hypoglycemia, hypoalbuminemia, metabolic acidosis, electrolyte imbalance and anemia were associated with poorer survival. Elevated INR (Hazard Ratio [HR]: 0.17, 95 % CI: 0.03–0.87, p=0.034), hypoglycemia (HR: 0.48, 95 % CI: 0.25–0.91, p=0.026) and hypoalbuminemia (HR: 0.09, 95 % CI: 0.03–0.26, p<0.001) were the independent prognostic factors for survival after adjusting for confounding factors. For the prediction of survival, INR, glucose, and albumin were used to structure a novel index (IGAm = INR-Glucose-Albumin metabolic index). The median survival was shorter in the IGAm-high group (2 or 3 points) than in the IGAm-low group (p<0.001). Harrell’s c-index was 0.73 for the IGAm index.
Conclusions
The devised novel IGAm index can predict long-term survival in patients with IMDs, with a high IGAm index being associated with higher mortality in patients with IMDs.
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Research ethics: The local Institutional Review Board approved this study.
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Informed consent: Not applicable.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Research funding: None declared.
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Articles in the same Issue
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- Extremely and very preterm children who were born appropriate for gestational age show no differences in cortisol concentrations or diurnal rhythms compared to full-term children
- A prospective comparison study of subcutaneous and intramuscular testosterone injections in transgender male adolescents
- Excess body weight and dyslipidemia at well-child visit
- Body mass index evolution and ovarian function in adolescent girls who received GnRH agonist treatment for central precocious puberty or early and fast puberty
- Assessment of pubertal onset and disorders of puberty in Indian children and youth with type-1 diabetes
- A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity
- Expected vs. perceived effects of gender-affirming hormone therapy among transmasculine adolescents
- Developmental scores in offspring of women with subclinical hypothyroidism in pregnancy are affected by gender and thyrotropin cutoff
- Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation
- IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disorders
- Case Report
- Persistent hypercalcemia mimicking hypophosphatasia after discontinuation of a ketogenic diet: a case report
Articles in the same Issue
- Frontmatter
- Review
- Clinical heterogeneity and therapeutic options for idiopathic infantile hypercalcemia caused by CYP24A1 pathogenic variant
- Original Articles
- Growth hormone use in pediatric inflammatory bowel disease
- Extremely and very preterm children who were born appropriate for gestational age show no differences in cortisol concentrations or diurnal rhythms compared to full-term children
- A prospective comparison study of subcutaneous and intramuscular testosterone injections in transgender male adolescents
- Excess body weight and dyslipidemia at well-child visit
- Body mass index evolution and ovarian function in adolescent girls who received GnRH agonist treatment for central precocious puberty or early and fast puberty
- Assessment of pubertal onset and disorders of puberty in Indian children and youth with type-1 diabetes
- A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity
- Expected vs. perceived effects of gender-affirming hormone therapy among transmasculine adolescents
- Developmental scores in offspring of women with subclinical hypothyroidism in pregnancy are affected by gender and thyrotropin cutoff
- Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation
- IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disorders
- Case Report
- Persistent hypercalcemia mimicking hypophosphatasia after discontinuation of a ketogenic diet: a case report
