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Ditemukan 151 dokumen yang sesuai dengan query
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"Benign recurrent intrahepatic cholestasis (BRIC) or idiopathic recurrent intrahepatic cholestasis is a rare case. It is familial and autosomal recessive. The etiology of BRIC is still unknown. We report the case of of patient with BRIC who suffered recurrent jaundice 7 times in 7 years that occurred for 1-3 months with spontaneous resolution. This patient received ursodeoxycholic acid, cholestiramine and prednisone. And within 2 months, the jaundice resolved together with other complaints."
Jakarta: The Indonesian Journal of Gastroenterology Hepatology and Digestive Endoscopy, 2001
IJGH-2-1-Apr 2001-41
Artikel Jurnal  Universitas Indonesia Library
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Gultom, Lanny Christine
"Latar belakang. NICCD merupakan salah satu penyebab kolestasis intrahepatik pada bayi yang disebabkan oleh mutasi gen SLC25A13 pada kromosom 7q21.3 dan diturunkan secara autosomal resesif. Kelainan tersebut berisiko menjadi adult-onset type II citrullinemia CTLN2 pada masa dewasa dengan gejala hiperamonemia berulang, koma hepatikum, atau neuropsikiatrik yang membutuhkan tranplantasi hati. Kebanyakan pasien NICCD menunjukkan perbaikan gejala sebelum usia 1 tahun dan dapat ditata laksana dengan formula yang mengandung trigliserida rantai sedang dan/atau bebas laktosa serta vitamin yang larut dalam lemak.
Tujuan. 1 Merancang suatu algoritme untuk mendeteksi NICCD pada bayi berusia 0 - 1 tahun dengan kolestasis intrahepatik di Indonesia yang berisiko mengalami CTLN2 di masa dewasa, 2 Mengetahui prevalens dan jenis mutasi gen SLC25A13, serta 3 Mengetahui gambaran klinis dan laboratoris subjek yang memiliki mutasi gen SLC25A13.
Metode penelitian. Desain penelitian adalah potong lintang. Sebanyak 107 bayi dengan kolestasis intrahepatik ikut serta di dalam penelitian. Subjek yang memenuhi kriteria inklusi menjalani pemeriksaan profil asam amino dengan metode LC-MS/MS dan 10 mutasi gen SLC25A13 yang sering ditemukan pada populasi di Asia Timur, yaitu 851del4, IVS11 1G>A, 1638ins23, S225X, IVS13 1G>A, 1800ins1, R605X, E601X, E601K, dan IVS16ins3kb dengan metode polymerase chain reaction - restriction fragment length polymorphism PCR - RFLP , long-range PCR, dan DNA sequencing.
Hasil penelitian. Sebanyak 6 subjek mempunyai USG abdomen, kultur darah dan urin yang normal, kenaikan berat badan yang tidak adekuat, serta kenaikan kadar citrulline. Satu dari 6 subjek tersebut mempunyai mutasi gen SLC25A13 dalam bentuk heterozigot IVS16ins3kb sehingga prevalens mutasi gen SLC25A13 dalam penelitian ini adalah 0,9 . Gambaran klinis subjek meliputi kuning, lahir kurang bulan, kecil masa kehamilan, kolestasis intrahepatik, dan kenaikan berat badan tidak adekuat tanpa hepatomegali, splenomegali, atau asites. Ultrasonografi abdomen yang normal, kultur darah dan urin yang steril, disfungsi hati, hipoproteinemia, dan hipoalbuminemia merupakan hasil pemeriksaan lain yang ditemukan pada subjek. Profil asam amino menunjukkan peningkatan kadar citrulline, glutamate, methionine, dan alanine.
Kesimpulan. Mutasi gen SLC25A13 juga ditemukan di Indonesia seperti di Negara Asia Timur lainnya, yaitu IVS16ins3kb. Oleh karena subjek adalah heterozigot IVS16ins3kb dan memiliki gambaran klinis yang sesuai dengan NICCD, maka pemeriksaan seluruh ekson dan intron flanking region dari gen SLC25A13 perlu dilakukan untuk membuktikan bahwa subjek mempunyai mutasi gen SLC25A13 dalam bentuk compound heterozygous. Algoritme untuk mendeteksi NICCD pada bayi berusia 0 - 1 tahun dengan kolestasis intrahepatik di Indonesia telah dibuat untuk memudahkan klinisi dalam menegakkan diagnosis NICCD. Kata kunci. Mutasi gen SLC25A13, NICCD, kolestasis intrahepatik.

Background. NICCD is an autosomal recessive condition which causes intrahepatic cholestasis in infants due to SLC25A13 gene mutation on chromosome 7q21.3. Infant with this disorder can have a risk to have adult onset type II citrullinemia CTLN2 with symptoms of recurrent hyperammonemia, hepatic coma, or neuropsychiatric problem requiring liver transplantation. Most patients showed symptom improvements before 1 year old which can be managed with medium chain triglycerides and or lactose free containing formula and fat soluble vitamins.
Objectives. 1 Design an algorithm to detect NICCD in 0 - 1 years old infants with intrahepatic cholestasis in Indonesia who at risk for CTLN2 in adulthood, 2 Obtain the prevalence and type of SLC25A13 gene mutation, and 3 Describe the clinical and laboratory profiles of subject who has SLC25A13 gene mutation.
Methods. The study design is cross sectional included 107 infants with intrahepatic cholestasis. Subjects who met inclusion criterias underwent the examinations of amino acid profiles using LC MS MS method and 10 hot spot mutations of SLC25A13 gene which is frequently found in East and South East Asian populations 851del4, IVS11 1G A, 1638ins23, S225X, IVS13 1G A, 1800ins1, R605X, E601X, E601K, dan IVS16ins3kb using polymerase chain reaction - restriction fragment length polymorphism PCR - RFLP, long PCR, and DNA sequencing methods.
Results. Six subjects had normal results of abdominal ultrasound, blood and urine cultures, inadequate body weight increment, and increase citrulline level. One of them had heterozygous of IVS16ins3kb, which made the prevalence of SLC25A13 gene mutation in this study was 0.9 . This subject born preterm and small for gestational age. He had jaundice due to intrahepatic cholestasis, inadequate body weight increment without hepatomegaly, splenomegaly, or ascites, normal abdominal ultrasonography, sterile blood and urine cultures, liver dysfunction, hypoproteinemia, and also hypoalbuminemia. The amino acid profiles showed elevated level of citrulline, glutamate, methionine, and alanine.
Conclusions. One of SLC25A13 gene mutations is also found in Indonesia as in other East and South East Asian countries, which is IVS16ins3kb. All exon and flanking region examinations of SLC25A13 gene are necessary to prove the possibility of compound heterozygous form in this subject because his clinical profiles were corresponding to NICCD. The algorithm to detect NICCD in 0 - 1 year old infant in Indonesia has been made to facilitate the clinicians in establishing the diagnosis of NICCD. Key words. SLC25A13 gene mutation NICCD intrahepatic cholestasis.
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Jakarta: Fakultas Kedokteran Universitas Indonesia, 2017
T-Pdf
UI - Tesis Membership  Universitas Indonesia Library
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Alberta Novianti
"Kolestasis merupakan terhambatnya aliran empedu ke duodenum. Kolestasis dapat menyebabkan beberapa masalah terhadap penderita, salah satunya kulit menjadi kering akibat defisiensi vitamin yang larut dalam lemak terutama vitamin E. Penulisan karya ilmiah ini bertujuan untuk menggambarkan masalah kerusakan integritas kulit pada anak dengan kolestasis intrahepatik. Intervensi utama yang dilakukan untuk mengatasi masalah integritas kulit adalah mengkaji keadaan kulit klien, memandikan pasien menggunakan sabun dengan moisturizer dan air hangat dan mengoleskan minyak zaitun pada daerah kulit yang kering sambil dilakukan masase ringan. Evaluasi tindakan keperawatan menunjukkan hasil yang efektif bahwa setelah diberikan intervensi dengan mengoleskan minyak zaitun, kulit yang semula kering semakin membaik serta tidak ada lesi.

Cholestasis is blocked by the flow of bile into the duodenum. Cholestasis can cause some problems to the patient, one of which the skin becomes dry due to deficiency of fat soluble vitamins, especially vitamin E. The writing of this paper aims to describe the problem of skin integrity in children with intrahepatic cholestasis. The main interventions to address skin integrity issues are to assess the client 39 s skin condition, bath the patient using soap with a moisturizer and warm water and apply olive oil to dry areas of the skin while doing a little massage. Evaluation of nursing actions showed an effective result that after being given intervention a drying skin by applying olive oil is getting better and no lesions."
Depok: Fakultas Ilmu Keperawatan Universitas Indonesia, 2017
PR-pdf
UI - Tugas Akhir  Universitas Indonesia Library
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Wassenaar, Trudy M
Hoboken: N.J Wiley-Blackwell, 2012
616.9201 WAS b
Buku Teks SO  Universitas Indonesia Library
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Tahapary, Dicky Levenus
"Menentukan penyebab kolestasis merupakan tantangan tersendiri, namun hal itu perlu mendapatkan perhatian khusus karena akan menentukan langkah selanjutnya. Leptospirosis, yang dapat bermanifestasi sebagai kolestasis, mempunyai gambaran klinis yang sangat bervariasi sehingga penegakkan diagnosis seringkali sulit. Pada makalah ini dilaporkan kasus laki-laki, usia 50 tahun dengan nyeri perut kanan atas dan kolestasis disertai gangguan fungsi ginjal, pneumonia dan gambaran EKG abnormal. Pemeriksaan serologi leptospira menunjukkan hasil IgM positif. Perlu dipertimbangkan pemeriksaan screening leptospirosis pada pasien dengan kolestasis terutama pasien dengan risiko tinggi terinfeksi leptospira.

Discovering the etiology of cholestasis is challenging, but it requires particular rconsideration, because it will determine our next steps. While leptospirosis may cause cholestasis, leptospirosis has diverse clinical spectrum so that it is often difficult to establish the diagnosis. We reported a fifty-year-old man with right upper quadrant abdominal pain and cholestasis. In addition, we also found distorted renal function, pneumonia, and ECG abnormalities. The patient underwent serologic test for leptospiral infection and the IgM was positive. These findings showed the necessity for considering leptospirosis screening in patients with cholestasis especially those in higher risk group."
Jakarta: Fakultas Kedokteran Universitas Indonesia, 2013
AJ-Pdf
Artikel Jurnal  Universitas Indonesia Library
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Sulaiman Yusuf
"Recurrent abdominal pain is one of the most common symptoms found in children. Description of abdominal pain is important in determining the etiologic cause. Organic pain must be ruled out first before suspecting psychogenic cause of pain. However; Children and infant are likely having difficulties in describing abdominal pain. Referred pain may lead to misdiagnosis. Alarm symptoms of abdominal pain are important indices and must be recognized. Careful and complete anamnesis and physical examination play critical role in management approach of recurrent abdominal pain in children and determine whether medical therapy only or combination with surgical intervention is considered necessary."
Jakarta: The Indonesian Journal of Gastroenterology Hepatology and Digestive Endoscopy, 2006
IJGH-7-2-Agt2006-42
Artikel Jurnal  Universitas Indonesia Library
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MacAvoy, Paul W.
Hampshire: Palgrave Macmillan, 2003
658.4 MAC r
Buku Teks SO  Universitas Indonesia Library
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Sparks, Nicholas
Barcelona: Roca, 2011
813.54 SPA l
Buku Teks SO  Universitas Indonesia Library
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Tjandraningrum
"Kolestasis merupakan salah satu manifestasi gangguan bilier yang terjadi akibat gangguan aliran empedu dari hati ke duodenum. Kolestasis diklasifikasikan berdasarkan perjalanan penyakitnya menjadi kolestasis akut dan kronis. Tatalaksana nutrisi pada kolestasis bertujuan untuk mengatasi defisiensi nutrien yang umumnya terjadi tetapi terdapat perbedaan dalam tatalaksana tersebut, tergantung penyebab kolestasis dan kondisi klinis pasien. Selain itu nutrisi perioperatif pada kolestasis yang menjalani pembedahan diperlukan untuk mencegah risiko komplikasi pasca bedah dan gangguan saluran cerna akibat tindakan pembedahan.
Dilaporkan 4 kasus kolestasis, dua kasus kolestasis akut dan dua kasus lainnya kolestasis kronis. Kasus 1 dan 2, berturut-turut adalah kolestasis akut e.c. kolelitiasis multipel dan kolestasis akut e.c. kolesistolitiasis multipel. Kasus 3 adalah kolestasis kronis e.c. kista duktus koledokus dan kasus 4 kolestasis kronis e.c. adenokarsinoma ampula Vateri. Pasien kasus 3 berusia 2 tahun 3 bulan, sementara kasus 1, 2 dan 4 berusia antara 22 tahun sampai 45 tahun. Pada semua kasus terdapat riwayat nyeri perut bagian atas, sklera ikterik dan peningkatan kadar bilirubin, fosfatase alkali dan -GT.
Keempat kasus menjalani pembedahan untuk mengatasi keadaan kolestasis tersebut. Tatalaksana nutrisi perioperatif yang adekuat pada kasus 1, 2 dan 4 dapat mencegah risiko komplikasi pasca bedah dan pada kasus 3 dapat memperbaiki komplikasi pasca bedah berupa wound dehiscence. Pasca bedah, kondisi klinis keempat pasien membaik, terlihat dari berkurangnya keluhan nyeri perut bagian atas, berkurangnya ikterik pada sklera dan perbaikan kapasitas fungsional. Toleransi asupan seluruh pasien membaik, ditunjukkan oleh kemampuan pasien untuk mengonsumsi makanan sesuai kebutuhan energi dan nutriennya.
Berdasarkan kepustakaan dan pengalaman tatalaksana nutrisi keempat pasien tersebut, pada kolestasis diperlukan tatalaksana nutrisi yang adekuat yaitu pada perioperatif dan pasca rawat. Edukasi pasien tentang pemilihan jenis makanan dan cara pemberiannya berguna untuk mencegah kekambuhan.

Cholestasis is one manifestation of biliary disorders caused by interruption flow of bile from the liver to the duodenum. Cholestasis classified becomes acute and chronic cholestasis. Management of nutrition on cholestasis aims to improve nutrient deficiency that commonly occur but there is a difference in the treatment of these, depending on the cause of cholestasis and the clinical condition of the patient. Additionally perioperative nutrition on cholestasis who underwent surgery is needed to prevent the risk of post-surgical complications and gastrointestinal disorders caused by surgery.
Reported 4 cases of cholestasis, cholestatic two cases of acute and chronic cholestasis two other cases. Cases 1 and 2, respectively acute cholestasis ec kolelitiasis multiple and acute cholestasis e.c. kolesistolitiasis multiple. Case 3 is a chronic cholestatic e.c. koledokus duct cysts and 4 cases of chronic cholestasis ec adenocarcinoma of the ampulla of Vater. 3 case patients aged 2 years and 3 months, while cases 1, 2 and 4 are aged between 22 years to 45 years.. In all cases there is a history of upper abdominal pain, sclera jaundice and elevated levels of bilirubin, alkaline phosphatase, and -GT.
The four cases underwent surgery to resolve the situation cholestasis. Management of perioperative nutrition adequate in cases 1, 2 and 4 can prevent the risk of postoperative complications and in case 3 may improve post-surgical complications such as wound dehiscence. Post-surgery, four patients improved clinical condition, as seen from the reduced upper abdominal pain, jaundice in the sclera reduction and improved functional capacity. Tolerance intake of all patients improved, indicated by the patient?s ability to eat food and energy needs nutrient.
Based on the literature and experience of nutritional management of the four patients, the treatment of cholestasis is necessary that adequate nutrition in perioperative and post-hospitalization. Educating patients about the choice of food and the way of administration is useful to prevent a recurrence.
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Jakarta: Fakultas Kedokteran Universitas Indonesia, 2012
SP-Pdf
UI - Tugas Akhir  Universitas Indonesia Library
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Yassir
"Recurrent acute pancreatitis is often caused by excessive alcohol intake and bile stones. Patients suffering from more than one episode of acute pancreatitis are diagnosed with recurrent acute pancreatitis. The etiology of recurrent acute pancreatitis is known in 70 to 90% of patients after evaluation incorporating history taking, physical examination, routine laboratory assessment, and transabdominal ultrasonography or CT scan. However, the etiology of 10 to 30% of patients with recurrent acute pancreatitis remains undetermined. Further more sensitive evaluation is often performed, such as ERCP, ultrasound endoscopy, or MRCP, in order to determine the cause for recurrent acute pancreatitis. These tests are usually able to diagnose microlithiasis, sphincter oddi dysfunction, or pancreatic division,3-4'5-6>7.
Medina- Perez M, Garcia Ferris G, Caballow Gomes J, Hospital de la Merced, and Ossuna Sevilla reported a rare case on a 33-year old woman with recurrent acute pancreatitis related with an anatomical abnormality in the form of a duplicate duodenal ampulla with multiple stones2 Even though several researches were able to detect microlithiasis in less than 10% of all patients with recurrent acute pancreatitis, most of them found microlithiasis in approximately two thirds of the patients.3"
2003
AMIN-XXXV-3-JuliSep2003-140
Artikel Jurnal  Universitas Indonesia Library
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