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.

Pakistan Armed Forces Medical Journal

卷:70

Ayesha Batool¹  Saeed Zaman²  Kulsum Bilal³  Ammara Ayub⁴  Qudratullah Malik⁵ 

[1] CMH, Lahore;

[2] Combined Military Hospital Kharian/ National University of Medical Sciences (NUMS) Pakistan;

[3] District Headquarter, Kasur Pakistan;

[4] Islamic International Medical College, Rawalpindi Pakistan;

[5] Pak Emirates Military Hospital/National University of Medical Sciences (NUMS) Rawalpindi Pakistan;

关键词: inherited metabolic disorders;    glycogen storage disorders;    consanguinity;    convulsions;   

DOI  :  https://doi.org/10.51253/pafmj.v70i6.2417

来源: DOAJ

【 摘 要 】

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 studyPlace 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.

【 授权许可】

Unknown