Abstract
Multipl açil-KoA dehidrojenaz eksikliği (MADD) yakın tarihte tanımlanan, otozomal resesif geçişli, nadir
görülen bir organik asit metabolizma bozukluğudur. Görülme sıklığı yaklaşık 1/200.000 olarak tahmin
ediliyor. Klinik bulgular hayatın ilk yıllarında görülen mental retardasyon, ataksik yürüyüş ve tremor gibi
serebellar belirtiler ile karakterizedir. MADD'lı olgularda özellikle uzayan açlık, infeksiyon ve ameliyat gibi
katabolik durumlarda ölümcül hipoketotik hipoglisemik koma görülebilir. Perioperatif dönemde açlığı
engellemek için %5 dekstroz infüzyonu verildi. İndüksiyonu takiben idamede %50 O ve %50 kuru hava 2
karışımı ve propofol-fentanil infüzyon şeklinde uygulandı. Burada ender rastlanan riboflavin sensitif
MADD eksikliği olan, 5 yaşında kız olguya adenoidektomi ameliyatı sırasında yapılan TİVA anestezisi ve
glisemi kontrolü sunulmuştur
Keywords
References
- 1-Frerman FE, Goodman SI: Defects of Electron Transfer Flavoprotein and Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase: Glutaric Acidemia Type II. In The Metabolic and Molecular Bases of Inherited Disease. Edited by Scriver CR, Sly WS, Childs B, Beaudet AL, Valle D, Kinzler KW, Vogelstein B; 2001. 2-Olpin S. Multiple acyl-CoA dehydrogenase deficiency. http://www.orpha.net/consor/ www/cgibin/OC_Exp.php?lng=EN&Expert=26791. 3-Grice AS, Peck TE: Multiple acyl-CoA dehydrogenase deficiency: a rare cause of acidosis with a n i n c r e a s e d a n i o n g a p . Br J A n a e st h 2001;86(3):437–441. 4-Kaya Ü, Atılgan E, Güzeş AE, Aydın K, Energina M, L-2 Hidroksi Glutarik Asidüri: İki Olgu Sunumu. Turkiye Klinikleri J Pediatr 2007;16(2):126-129. 5-Sarah C Grünert. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Grünert Orphanet Journal of Rare Diseases 2014; 9:117-8. 6-Yağ asidi ve trigliserid metabolizması. Assulapia Tıp bilimleri web sitesi. http://assulapia.com/tus/tus27.pdf 7-Gempel K, Kottlors M, Jaksch M, Gerbitz KD, Bauer MF. “Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry”, J Inherit Metab Dis 1999;22(8):941-942. 8-Dilmen OK, Akcıl EF, Tunalı Y, Tutuncu AÇ, Utku Tve ark. Tip-1 Glutarik Asidurisi Olan Temporal Tumor Rezeksiyonu Uygulanan Bir Hastada Anestezi Deneyimimiz. Turk J Anaesth Reanim 2013;41:139-141. 9-Doğan M, Bektas MS, Okur M, Doğan ŞZ, Cesur Y, Çaksen H, Çağan E. Glutarik Asidüri Tip 2. Türkiye Çocuk Hast. Derg. / Turkish J. Pediatr. Dis. 2012;6(3):171-175. 10-al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT. Glutaric aciduria type II: observations in seven patients with neonatal and late-onset disease. J Perinatol. 2000; 20:120-128. 11-Gordon N. Glutaric aciduria types I and II. Brain Dev 2006;28:136-140. 12-Peluchetti D, Antozzi C, Roi S, DiDonato S, Cornelio F. “Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency: functional evaluation of recovery after high dose vitamin supplementation”, J Neurol Sci. 1991 Sep;105(1):93-98. 13-Abdenur JE, Chamoles NA, Schenone AB, Jorge L, Guinle A, Bernard C, Levandovskiy V, Fusta M, Lavorgna S. “Multiple acyl-CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment”, Pediatr Res. 2001;50(1):61-66. 14-Kayhan Z. Klinik Anestezi Genişletilmiş 3 Baskı. Ankara: Logos Yayıncılık 2004, 97-99.
Abstract
Emphysematous pyelonephritis is an acute severe necrotizing infection of the renal parenchyma and its
surrounding tissues that results in the presence of gas in the renal parenchyma, collecting system or
perinephric tissue. Our case was a 55-year-old diabetic woman who was referred to us from the internal
medicine department. As a result of the investigation, patient was diagnosed with emphysematous
pyelonephritis and nephrectomy was performed as an emergency.
In this study, we aimed to present the clinical details, the management strategies, and the outcome of patients
of emphysematous pyelonephritis managed at our center.
References
- 1-Frerman FE, Goodman SI: Defects of Electron Transfer Flavoprotein and Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase: Glutaric Acidemia Type II. In The Metabolic and Molecular Bases of Inherited Disease. Edited by Scriver CR, Sly WS, Childs B, Beaudet AL, Valle D, Kinzler KW, Vogelstein B; 2001. 2-Olpin S. Multiple acyl-CoA dehydrogenase deficiency. http://www.orpha.net/consor/ www/cgibin/OC_Exp.php?lng=EN&Expert=26791. 3-Grice AS, Peck TE: Multiple acyl-CoA dehydrogenase deficiency: a rare cause of acidosis with a n i n c r e a s e d a n i o n g a p . Br J A n a e st h 2001;86(3):437–441. 4-Kaya Ü, Atılgan E, Güzeş AE, Aydın K, Energina M, L-2 Hidroksi Glutarik Asidüri: İki Olgu Sunumu. Turkiye Klinikleri J Pediatr 2007;16(2):126-129. 5-Sarah C Grünert. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Grünert Orphanet Journal of Rare Diseases 2014; 9:117-8. 6-Yağ asidi ve trigliserid metabolizması. Assulapia Tıp bilimleri web sitesi. http://assulapia.com/tus/tus27.pdf 7-Gempel K, Kottlors M, Jaksch M, Gerbitz KD, Bauer MF. “Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry”, J Inherit Metab Dis 1999;22(8):941-942. 8-Dilmen OK, Akcıl EF, Tunalı Y, Tutuncu AÇ, Utku Tve ark. Tip-1 Glutarik Asidurisi Olan Temporal Tumor Rezeksiyonu Uygulanan Bir Hastada Anestezi Deneyimimiz. Turk J Anaesth Reanim 2013;41:139-141. 9-Doğan M, Bektas MS, Okur M, Doğan ŞZ, Cesur Y, Çaksen H, Çağan E. Glutarik Asidüri Tip 2. Türkiye Çocuk Hast. Derg. / Turkish J. Pediatr. Dis. 2012;6(3):171-175. 10-al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT. Glutaric aciduria type II: observations in seven patients with neonatal and late-onset disease. J Perinatol. 2000; 20:120-128. 11-Gordon N. Glutaric aciduria types I and II. Brain Dev 2006;28:136-140. 12-Peluchetti D, Antozzi C, Roi S, DiDonato S, Cornelio F. “Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency: functional evaluation of recovery after high dose vitamin supplementation”, J Neurol Sci. 1991 Sep;105(1):93-98. 13-Abdenur JE, Chamoles NA, Schenone AB, Jorge L, Guinle A, Bernard C, Levandovskiy V, Fusta M, Lavorgna S. “Multiple acyl-CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment”, Pediatr Res. 2001;50(1):61-66. 14-Kayhan Z. Klinik Anestezi Genişletilmiş 3 Baskı. Ankara: Logos Yayıncılık 2004, 97-99.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | April 15, 2015 |
| Submission Date | November 24, 2014 |
| Acceptance Date | January 13, 2015 |
| Published in Issue | Year 2015 Volume: 12 Issue: 1 |
Harran Üniversitesi Tıp Fakültesi Dergisi / Journal of Harran University Medical Faculty