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- Title
PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN.
- Authors
Batool, Ayesha; Zaman, Saeed; Ayub, Ammara; Bilal, Kulsum; Malik, Qudratullah
- Abstract
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: Pak Emirates Military Hospital, Rawalpindi, from Jun 2015 to Jun 2016. Methodology: Sixty four children diagnosed with metabolic disorders, reporting to the Pak Emirates Military Hospital 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 manifestation 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). fifty three point one percent 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.
- Subjects
RAWALPINDI (Pakistan); METABOLIC disorders; HOSPITAL care of children; HOSPITAL care; FAILURE to thrive syndrome; TERTIARY care; MILITARY hospitals
- Publication
Pakistan Armed Forces Medical Journal, 2020, Vol 70, Issue 6, p1616
- ISSN
0030-9648
- Publication type
Article
- DOI
10.51253/pafmj.v70i6.2417