Browse > Article
http://dx.doi.org/10.5223/pghn.2019.22.6.588

Endovascular Closure Resolves Trimethylaminuria Caused by Congenital Portosystemic Shunts  

Ponce-Dorrego, Mar?a Dolores (Interventional Radiologist, Hospital General Universitario La Paz)
Garzon-Moll, Gonzalo (Interventional Radiologist, Hospital General Universitario La Paz)
Publication Information
Pediatric Gastroenterology, Hepatology & Nutrition / v.22, no.6, 2019 , pp. 588-593 More about this Journal
Abstract
This study aimed to report three new cases of an association between two rare conditions, congenital portosystemic shunts (CPSS) and trimethylaminuria (TMAU), and the efficacy of endovascular closure of the CPSS for resolving TMAU. Between November 2014 and April 2017, 15 patients with CPSS were enrolled in this prospective study to assess the efficacy of percutaneous endovascular shunt closure. Three patients presented with clinical symptoms of TMAU that were confirmed by urine analysis of trimethylamine (TMA) and TMA n-oxide. One year after endovascular closure of the congenital portosystemic shunt, the same parameters were evaluated were obtained and the values were compared to the pretreatment values. The results indicated the disappearance of clinical symptoms of TMAU and normalization of the urine test parameters in two patients and no changes in one patient, who developed new portosystemic communications.
Keywords
Congenital portosystemic shunt; Trimethylaminuria; Interventional radiology;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Messenger J, Clark S, Massick S, Bechtel M. A review of trimethylaminuria: (fish odor syndrome). J Clin Aesthet Dermatol 2013;6:45-8.
2 Cashman JR. The implications of polymorphisms in mammalian flavin-containing monooxygenases in drug discovery and development. Drug Discov Today 2004;9:574-81.   DOI
3 Mitchell SC, Smith RL. Trimethylaminuria: the fish malodor syndrome. Drug Metab Dispos 2001;29(4 Pt 2):517-21.
4 Christodoulou J. Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder. J Paediatr Child Health 2012;48:E153-5.   DOI
5 Ono H, Mawatari H, Mizoguchi N, Eguchi T, Sakura N. Clinical features and outcome of eight infants with intrahepatic porto-venous shunts detected in neonatal screening for galactosaemia. Acta Paediatr 1998;87:631-4.   DOI
6 Gitzelmann R, Forster I, Willi UV. Hypergalactosaemia in a newborn: self-limiting intrahepatic portosystemic venous shunt. Eur J Pediatr 1997;156:719-22.   DOI
7 Kanazawa H, Nosaka S, Miyazaki O, Sakamoto S, Fukuda A, Shigeta T, et al. The classification based on intrahepatic portal system for congenital portosystemic shunts. J Pediatr Surg 2015;50:688-95.   DOI
8 Hao Y, Hong X, Zhao X. Congenital absence of the portal vein associated with focal nodular hyperplasia of the liver and congenital heart disease (Abernethy malformation): a case report and literature review. Oncol Lett 2015;9:695-700.   DOI
9 Lautz TB, Shah SA, Superina RA. Hepatoblastoma in children with congenital portosystemic shunts. J Pediatr Gastroenterol Nutr 2016;62:542-5.   DOI
10 Osorio MJ, Bonow A, Bond GJ, Rivera MR, Vaughan KG, Shah A, et al. Abernethy malformation complicated by hepatopulmonary syndrome and a liver mass successfully treated by liver transplantation. Pediatr Transplant 2011;15:E149-51.   DOI
11 Bas S, Guran T, Atay Z, Haliloglu B, Abali S, Turan S, et al. Premature pubarche, hyperinsulinemia and hypothyroxinemia: novel manifestations of congenital portosystemic shunts (Abernethy malformation) in children. Horm Res Paediatr 2015;83:282-7.   DOI
12 Wise PM, Eades J, Tjoa S, Fennessey PV, Preti G. Individuals reporting idiopathic malodor production: demographics and incidence of trimethylaminuria. Am J Med 2011;124:1058-63.   DOI
13 Mackay RJ, McEntyre CJ, Henderson C, Lever M, George PM. Trimethylaminuria: causes and diagnosis of a socially distressing condition. Clin Biochem Rev 2011;32:33-43.
14 Mountain H, Brisbane JM, Hooper AJ, Burnett JR, Goldblatt J. Trimethylaminuria (fish malodour syndrome): a "benign" genetic condition with major psychosocial sequelae. Med J Aust 2008;189:468.   DOI
15 Sato H, Miura M, Yaoita N, Yamamoto S, Tatebe S, Aoki T, et al. Pulmonary arterial hypertension associated with congenital portosystemic shunts treated with transcatheter embolization and pulmonary vasodilators. Intern Med 2016;55:2429-32.   DOI
16 Franchi-Abella S, Branchereau S, Lambert V, Fabre M, Steimberg C, Losay J, et al. Complications of congenital portosystemic shunts in children: therapeutic options and outcomes. J Pediatr Gastroenterol Nutr 2010;51:322-30.   DOI
17 Gong Y, Zhu H, Chen J, Chen Q, Ji M, Pa M, et al. Congenital portosystemic shunts with and without gastrointestinal bleeding - case series. Pediatr Radiol 2015;45:1964-71.   DOI
18 Schaeffer DF, Laiq S, Jang HJ, John R, Adeyi OA. Abernethy malformation type II with nephrotic syndrome and other multisystemic presentation: an illustrative case for understanding pathogenesis of extrahepatic complication of congenital portosystemic shunt. Hum Pathol 2013;44:432-7.   DOI
19 Bernard O, Franchi-Abella S, Branchereau S, Pariente D, Gauthier F, Jacquemin E. Congenital portosystemic shunts in children: recognition, evaluation, and management. Semin Liver Dis 2012;32:273-87.   DOI
20 Fernandez MS, Gutierrez C, Vila JJ, Lopez A, Ibanez V, Sanguesa C, et al. Congenital intrahepatic portocaval shunt associated with trimethylaminuria. Pediatr Surg Int 1997;12(2-3):196-7.   DOI