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Karakteristik hiperplasia adrenal kongenital dan manifestasi klinis dini pada pasien anak di rumah sakit Prof. dr. I.G.N.G. Ngoerah, Denpasar

Abstract

Background: Congenital adrenal hyperplasia is an abnormality in the 21-hydroxylase enzyme, which causes disturbances in the formation of the hormone cortisol. The incidence of congenital adrenal hyperplasia is not known with certainty but is estimated to occur in 1 in 10,000 to 20,000 live births. This study aimed to determine the characteristics of patients with congenital adrenal hyperplasia and early clinical manifestations at Prof. Dr. I.G.N.G Ngoerah General Hospital, Denpasar, so clinicians can choose the appropriate diagnosis and therapy.

Method: This research is a descriptive study with a retrospective design. Research subjects aged 0-18 years who suffered from congenital adrenal hyperplasia during the study period used consecutive sampling techniques until the number of subjects was met. Statistical analysis using the SPSS v.26 program.

Results: Most patients are female (53.7%) and aged 0-5 months (92.7%). Judging from domicile, 13 patients (31.7%) came from Gianyar, 10 patients (24.4%) from Tabanan, and 9 patients (22%) from Badung. Clinical manifestations include increased levels of 17 OHP (100%), diarrhea (95.1%), hyperpigmentation (90.2%), dehydration (87.8%), lethargy (85.4%), vomiting (82.9%), seizures (80.5%), hyponatremia ( 80.5%), hyperkalemia (80.5%), ambiguous genitalia (14.6%), shortness of breath (9.8%), and failure to thrive (2.4%). The diagnosis of congenital adrenal hyperplasia was salt wasting type in 35 (85.4%). All congenital adrenal hyperplasia patients received hydrocortisone therapy, and 18 (45%) received additional fludrocortisone therapy.

Conclusion: The majority of congenital adrenal hyperplasia aged 0-5 months are female, with a diagnosis of salt wasting. Clinical manifestations include hyperpigmentation, seizures, failure to thrive, ambiguous genitalia, lethargy, diarrhea, vomiting, dehydration, shortness of breath, hyponatremia, hyperkalemia, and increased levels of 17 OHP.

 

Latar Belakang: Hiperplasia adrenal kongenital merupakan kelainan pada enzim 21-hidroksilase yang menyebabkan gangguan pembentukan hormon kortisol. Insiden hiperplasia adrenal kongenital belum diketahui secara pasti, namun diperkirakan terjadi pada 1 dari 10.000 hingga 20.000 kelahiran hidup. Penelitian ini bertujuan mengetahui karakteristik pasien dengan hiperplasia adrenal kongenital dan manifestasi klinis dini di RSUP Prof. Dr. I.G.N.G Ngoerah, Denpasar sehingga klinisi dapat menentukan diagnosis dan terapi yang tepat.

Metode: Penelitian ini merupakan studi deskriptif dengan desain retrospektif. Subyek penelitian berusia 0-18 tahun yang menderita hiperplasia adrenal kongenital selama periode penelitian dengan teknik Consecutive Sampling hingga jumlah subjek terpenuhi. Analisis statistik menggunakan program SPSS v.26.

Hasil: Sebagian besar pasien merupakan perempuan (53,7%) dan berusia 0-5 bulan (92,7%). Ditinjau dari domisili, sebanyak 13 pasien (31,7%) berasal dari Gianyar, 10 pasien (24,4%) dari Tabanan, dan 9 pasien (22%) dari Badung. Manifestasi klinis berupa peningkatan kadar 17 OHP (100%), diare (95,1%), hiperpigmentasi (90,2%), dehidrasi (87,8%), letargis (85,4%), muntah (82,9%), kejang (80,5%), hiponatremia (80,5%), hiperkalemia (80,5%), ambigus genitalia (14,6%), sesak (9,8%), dan gagal tumbuh (2,4%). Diagnosis hiperplasia adrenal kongenital berupa tipe Salt-Wasting 35 (85,4%). Seluruh pasien hiperplasia adrenal kongenital mendapatkan terapi hidrokortison dan 18 pasien (45%) mendapatkan tambahan terapi fludrokortison.    

Simpulan: Sebagian besar hiperplasia adrenal kongenital berusia usia 0-5 bulan, jenis kelamin perempuan, dengan diagnosis Salt-Wasting. Manifestasi klinis berupa hiperpigmentasi, kejang, gagal tumbuh, ambigus genitalia, letargis, diare, muntah, dehidrasi, sesak, hiponatremia, hiperkalemia, dan peningkatan kadar 17 OHP.

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How to Cite

Satriawan, M. M. C., Arimbawa, I. M. ., & Yuda, I. M. D. . (2023). Karakteristik hiperplasia adrenal kongenital dan manifestasi klinis dini pada pasien anak di rumah sakit Prof. dr. I.G.N.G. Ngoerah, Denpasar. Medicina, 54(3), 170–174. https://doi.org/10.15562/medicina.v54i3.1279

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Made Mulya Cintyadewi Satriawan
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