The PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN Clinical manifesttaions of IMDs.
Objective: To determine the frequency of a wide range of clinical presentations of inherited metabolic disorders diagnosed in infants and children at a tertiary care hospital in Rawalpindi, Pakistan. Study Design: Cross sectional study Place and Duration of Study: MH Rawalpindi, from June 201...
Guardado en:
| Autores principales: | , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Army Medical College Rawalpindi
2020
|
| Materias: | |
| Acceso en línea: | https://doi.org/10.51253/pafmj.v70i6.2417 https://doaj.org/article/3e7c28f527d04421b4950756dfdfae63 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| Sumario: | Objective: To determine the frequency of a wide range of clinical presentations of inherited metabolic disorders diagnosed in infants and children at a tertiary care hospital in Rawalpindi, Pakistan.
Study Design: Cross sectional study
Place and Duration of Study: MH Rawalpindi, from June 2015 till June 2016.
Material and Methods: 64 children diagnosed with metabolic disorders, reporting to the MH Rawalpindi, were enrolled in the study. History was taken with special reference to family history, consanguineous marriage, sibling’s death and clinical manifestations. Thorough physical examination was done in every patient to find out the clinical signs present. All the data was recorded on a proforma. SPSS-20 version was used to derive the results and p-value of <0.05 was taken as statistically significant.
Results: In children with metabolic disorders, gastrointestinal manifestations were more significant 78·1% (p-value 0.022). Neurological signs were present in 60·9% (p-value 0.094) while respiratory manifestations were present in 15·6% children (p-value 0.251). 53·1% were males and 46·9% were females. The positive history of other affected children in family was significant (p-value 0.015), along with hypoglycaemia (p-value 0.001).
Conclusion: Pallor, failure to thrive, poor feeding, convulsions, lethargy and hypoglycemia were the most frequent clinical manifestations in children with metabolic disorders. |
|---|