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All Journal Journal of Tropical Life Science : International Journal of Theoretical, Experimental, and Applied Life Sciences Jurnal Kedokteran Brawijaya Journal of Biomedicine and Translational Research Research Journal of Life Science Jurnal Penelitian Pendidikan IPA (JPPIPA) International Journal of Community Service Learning ISM (Intisari Sains Medis) : Jurnal Kedokteran Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML) Caring : Jurnal Pengabdian Masyarakat Jurnal Klinik dan Riset Kesehatan MEDICINUS The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy Folia Medica Indonesiana
Hani Susianti
Department Of Clinical Pathology Faculty Of Medicine Universitas Brawijaya Malang
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Journal : MEDICINUS

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Congenital Analbuminemia Santosa, Putu Adi; Widijanti, Anik; Susianti, Hani; Intanwati, Sherly; Meilani, Rossy
MEDICINUS Vol. 33 No. 2 (2020): MEDICINUS
Publisher : PT Dexa Medica

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (111.628 KB) | DOI: 10.56951/medicinus.v33i2.50

Abstract

Congenital analbuminemia (CAA) is a rare autosomal recessive disorder, characterized by the absence or very low level of serum albumin (human serum albumin/HSA) as a result of defect on chromosome 4 which encodes albumin. It is defined as albumin level <1 g/l with normal liver function and the absence of protein loss.1,2 Estimated CAA prevalence is less than 1 in 1 million.A 10-year-old boy suffered from generalized edema that got worsened since last month. The patient had been misdiagnosed with nephrotic syndrome 2 years earlier, and then became protein-losing enteropathy. Neither cough nor diarrhea were reported. The patient had history of food allergy. Physical examination showed moderately ill condition, Glasgow Coma Scale (GCS) score E4 V5 M6, blood pressure 90/50 mmHg, pulse 120 x/min, respiratory rate 30x/min, palpebral edema, shifting dullness, undulation (+), with nonpitting edema on the extremities. Laboratory findings: leukocytosis (neutrophilia), peripheral blood smear showed hypochromic microcytic anisositosis erythrocyte. AAT serum 246 mg/dl, GGT serum: 88 U/l, iron serum 28 µg/dl, TIBC 411 µg/dl, transferrin saturation 7%, total IgE 775,90 U/ml. Serum Protein Electrophoresis (SPE) results were hypoalbuminemia (1,4 g/dl), hypogammaglobulinemia (0,21 g/dl), and total protein 2,91 g/dl. Chest X-ray showed pneumonia with minimal right pleural effusion. Overestimation of serum albumin level was caused by alpha and beta globulin that were detected as albumin in bromocresol green (BCG) methods. CAA aggravated with by allergy caused malnutrition in this patient. These data support the diagnosis of CAA with sepsis and iron deficiency anemia. Suggestion for the management consist of blood culture, procalcitonin level measurement, inguinal lymph node biopsy, DNA sequence analysis, also analysis of pleural and ascites fluid.
Pubertas Prekoks Perifer Isoseksual akibat Juvenille Granulosa Cell Tumor Santosa, Putu Adi; Widijanti, Anik; Susianti, Hani; Engli, Katherina Alfa
MEDICINUS Vol. 33 No. 3 (2020): MEDICINUS
Publisher : PT Dexa Medica

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (572.213 KB) | DOI: 10.56951/medicinus.v33i3.66

Abstract

A 16-month-old girl with peripheral isosexual precocious puberty due to juvenile granulosa cell tumor underwent unilateral salpingo-oophorectomy procedure to stop the symptoms of precocious puberty. The diagnosis was established based on the patient’s medical history, physical findings, laboratory and other examinations which demonstrated secondary sexual characteristics according to Tanner scale M3P2, presence of abdominal mass, elevated serum estradiol, and a histological finding of juvenile granulosa cell tumor. Karyotyping results was normal. Left salpingo-oophorectomy successfully reduced estradiol concentration and stop the menstruation, while the other secondary sexual characteristics is monthly assessed at the clinic.
Co-Authors Abd. Rasyid Syamsuri Ade Wildan Rizky Fachry Agustina Tri Endharti Airlangga, Dimas Ikhsan Anik Widijanti Antonius Johanes Ati Rastini Atma Gunawan Atma Gunawan Atma Gunawan Bayu Eka Nugraha Bogi Pratomo Bogi Pratomo Bogi Pratomo Choirinnisa Meilia Ayu Putri Chomsin Sulistya Widodo Dany Farida Deasy Ayuningtyas Tandio Deasy Ayuningtyas Tandio desy wulandari Dewi Purnama Sari Dian Hasanah Dian Sukma Hanggara Dian Sukma Hanggara Dian Sukma Hanggara Dimas Ikhsan Airlangga Dominica Pita Sari Dwi Priyadi Djatmiko Eko, Mudjiwijono Handaru Ekowati Retnaningtyas Elvin Richela Lawanto Elvira Sari Dewi Emanuel Hananto Engli, Katherina Engli, Katherina Alfa Esther Mayrita Gonius, Andry Handono Kalim Handono Kalim Handono Kalim Handono Kalim Hari Oki, Hambiah I Komang Adi Widana I Putu A.S I Putu Adi Santosa I Putu Adi Santosa Indah Adhita Wulandari Intanwati, Sherly Kalsumy, Umi Katherina Engli Kusworini Handono Kusworini Handono Kusworini Handono Kusworini Handono Kusworini Handono Kusworini Handono Laura Christiani Levrita Nindya Poetri Lisyani Suromo Meilani, Rossy Mona Yuliari Mudjiwijono Handaru Eko Muhammad Anshory, Muhammad Nelly Ismayasih Nimas Eka Firdaningrum Nora Ariyanti Norma Hanifah Sumarta Nugraha Setiawan Nugraha Setiawan Nugraha, Bayu Eka Nurdiana Nurdiana Nurdiana Nurdiana Perdana Aditya Rahman Pratama, Mirza Zaka Purwanto Adipireno Putri, Laily Ardhianti Putu Adi Santosa, Putu Adi R.I R.I Rahmawati, Hanifa Rizky Raymond Poeng Rossy Meilani Sari, Atika Windra Sari, Tita Luthfia Shahdevi Nandar Kurniawan, Shahdevi Nandar Singgih Wahono Siti Roziah Ria Famuji Solly Aryza Susanto Nugroho Syahrul Chilmi Syahrul Chilmi, Syahrul Thiba Dina Merdikaningsih Torajasa Achamar Tri Wahyudi Iman Dantara Wahono, Cesarius Singgih Wisnu Barlianto Wisnu Barlianto Wisnu Barlianto Yuliana Salman