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Spectrum of Addison's Disease in Children
Taj Muhammad Laghari1, Mohsina Noor Ibrahim1, Zubair Khoso1
1Division of Endocrinology and Metabolism, Department of Paediatrics, National Institute of Child Health, Karachi, Pakistan.
Insights
This study defines Addison's disease presentations in Pakistani children, noting symptoms like adrenal crisis, hyponatremia, and hyperkalemia. Increased awareness can improve diagnosis and management of this rare condition.
Area of Science:
- Pediatric Endocrinology
- Adrenal Disorders
Background:
- Addison's disease is a rare endocrine disorder.
- Clinical presentations can vary, especially in pediatric populations.
- Early diagnosis is crucial for effective management.
Purpose of the Study:
- To determine the clinical presentation of Addison's disease in Pakistani children.
- To enhance awareness of the disease's varied manifestations in this demographic.
- To aid in the timely diagnosis and management of pediatric Addison's disease.
Main Methods:
- Observational study conducted at the National Institute of Child Health, Karachi, Pakistan (2015-2019).
- Included 63 children diagnosed with Addison's disease through biochemical analysis and symptom evaluation.
- Ethical approval and informed consent were obtained prior to participant enrollment.
Main Results:
- The study included 36 boys and 27 girls, with mean ages at diagnosis of 3.92 and 4.96 years, respectively.
- Twelve patients presented with adrenal crisis, characterized by hyponatremia (100%), hyperkalemia (83%), and hypoglycemia (67%).
- Increased skin pigmentation was noted in 45 children; 15 had associated disorders like autoimmune polyendocrinopathy syndrome (APS).
Conclusions:
- This study outlines typical and atypical clinical presentations of Addison's disease in Pakistani children.
- Findings can improve the diagnostic accuracy and clinical management of pediatric Addison's disease.
- Highlights the importance of recognizing diverse symptoms for better patient outcomes.
Objective:
To determine the clinical presentation of Addison's disease in order to increase the awareness of presentation in Pakistani children.
Study Design:
Observational study.
Place And Duration Of Study:
Department of Diabetes and Endocrinology, National Institute of Child Health, Karachi, Pakistan, from 2015 to 2019.
Methodology:
Sixty-three children of Addison's disease were enrolled in the study, who have visited and facilitated from the services of National Institute of Child Health from urban and rural region of the Sindh province. Diagnosis were made through biochemical analysis and detailed examination of acute and chronic symptoms. Study was initiated after taking the approval from Institutional Review Board. Moreover, written informed consents were also taken from each of the study participant.
Results:
There were 36 boys and 27 girls with a mean age at diagnosis of 3.92 and 4.96 years, respectively. Twelve patients were presented with an adrenal crisis following an acute illness. All of them had hyponatraemia; however, 10 had a hyperkalaemia and 8 had been reported with hypoglycaemia. Increased skin pigmentation was observed in 45 children with other identifiable features including weight loss, lethargy, and poor response in activities. Moreover 15 of them were identified with associated disorder (autoimmune polyendocrinopattay syndrome (APS), Allgrove or triple A syndrome, and adrenoleukodystrophy). Conclusion: Typical and atypical presentations of Addison's disease in children of Pakistani population are defined in this study which may assist in better management of Addison's patients. Key Words: Adrenal crisis, Hyponatremia, Hyperkalemia, APS, Allgrove, Adrenoleukodystrophy.
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