nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.24884/1561-6274-2013-17-3-93-98nefr-503Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИPRACTICAL NOTESМЕТИЛМАЛОНОВАЯ АЦИДЕМИЯ У СИБСОВMETHYLMALONIC ACIDEMIA IN SIBLINGSЛевиашвилиЖ. Г.LeviashviliJ. G.

Кафедра факультетской педиатрии 

194100, Санкт-Петербург, ул. Литовская, д. 2. Тел. 952-98-09

jannalevi@gmail.comСавенковаН. Д.SavenkovaN. D.

Кафедра факультетской педиатрии

СмирноваМ. М.SmirnovaM. M.

Кафедра факультетской педиатрии

СырцоваА. Р.SyrzovaA. R.

Кафедра факультетской педиатрии

КарповаТ. В.KarpovaT. V.

Кафедра факультетской педиатрии

Санкт-Петербургский государственный педиатрический медицинский университетRussian Federation2013100320131739398Copyright © Левиашвили Ж.Г., Савенкова Н.Д., Смирнова М.М., Сырцова А.Р., Карпова Т.В., 20132013Левиашвили Ж.Г., Савенкова Н.Д., Смирнова М.М., Сырцова А.Р., Карпова Т.В.Leviashvili J.G., Savenkova N.D., Smirnova M.M., Syrzova A.R., Karpova T.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephrolog.ru/jour/article/view/503

В статье описаны клинические проявления метилмалоновой ацидемии (ММА) с тубулоинтерстициальным нефритом у двоих сибсов из одной семьи. Характерные признаки: отвращение к белку (тошнота на запах кипящего мяса), повторяющиеся приступы головной боли, анорексии, рвоты, зрительных и слуховых галлюцинаций, судорог, гипераммониемии, повышение метилмалоновой кислоты в моче. Обсуждены терапия и исход.

This article describes clinical manifestations of methylmalonic acidemia (MMA) with tubulointerstitial nephritis in two siblings from the same family. Typical signs are: an aversion to the protein (nausea at the smell of boiling meat), recurrent attacks of headache, anorexia, vomiting, visual and auditory hallucinations, convulsions, hyperammonemia, increase of methylmalonic acid in urine. Discussed therapy and outcome.

метилмалоновая ацидемиятубулоинтерстициальный нефритдетимethylmalonic аcidemiatubulointerstitial nephritischildrenReferencesHTTP://WWW.NCBI.NLM.NIH.GOV Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. SourceGeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993- .2005. Chapter 9, section [M]: Irini Manoli and Charles P Venditti. Methylmalonic Acidemia. Initial Posting: August 16, 2005; Last Update: September 28, 2010HTTP://WWW.NCBI.NLM.NIH.GOV Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. SourceGeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993- .2005. Chapter 9, section [M]: Irini Manoli and Charles P Venditti. Methylmalonic Acidemia. Initial Posting: August 16, 2005; Last Update: September 28, 2010Shapira SK, Ledley FD, Rosenblatt DS, Levy HL. Ketoacidotic crisis as a presentation of mild (“benign”) methylmalonic acidemia. J Pediatr 1991;119:80–84Shapira SK, Ledley FD, Rosenblatt DS, Levy HL. Ketoacidotic crisis as a presentation of mild (“benign”) methylmalonic acidemia. J Pediatr 1991;119:80–84Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat 2006;27:640–643Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat 2006;27:640–643Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 2007;62:225–230Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 2007;62:225–230Rutledge SL, Geraghty M, Mroczek E et al. Tubulointerstitial nephritis in metilmalonic academia Pediatr Nephrol 1993; 7:81-83Rutledge SL, Geraghty M, Mroczek E et al. Tubulointerstitial nephritis in metilmalonic academia Pediatr Nephrol 1993; 7:81-83Vant Hoff W. Renal Manifestations of Disorders (2007) Pediatric Nephrology. Edited – E.D. Avner, W.E Harmon, P. Niaudet, N. Yoshkawa Springer 2009; 1219-1234Vant Hoff W. Renal Manifestations of Disorders (2007) Pediatric Nephrology. Edited – E.D. Avner, W.E Harmon, P. Niaudet, N. Yoshkawa Springer 2009; 1219-1234Vant Hoff W. Methylmalonic Academia. Abstracts 14 th Congress of the internacional Pediatric Nephrology Association. 31August – 4 September, 2007 Budapest, Hungary. PediatrNephrol 2007; 22:1438Vant Hoff W. Methylmalonic Academia. Abstracts 14 th Congress of the internacional Pediatric Nephrology Association. 31August – 4 September, 2007 Budapest, Hungary. PediatrNephrol 2007; 22:1438Williams ZR, Hurley PE, Altiparmak UE, Feldon SE, Arnold GL, Eggenberger E, Mejico LJ. Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol 2009;147:929–933Williams ZR, Hurley PE, Altiparmak UE, Feldon SE, Arnold GL, Eggenberger E, Mejico LJ. Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol 2009;147:929–933Walter JH, Michalski A, Wilson WM, Leonard JV, Barratt TM, Dillon MJ. Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr 1989;148:344–348Walter JH, Michalski A, Wilson WM, Leonard JV, Barratt TM, Dillon MJ. Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr 1989;148:344–348D’Angio CT, Dillon MJ, Leonard JV. Renal tubular dysfunction in methylmalonic acidaemia. Eur J Pediatr 1991;150:259–263D’Angio CT, Dillon MJ, Leonard JV. Renal tubular dysfunction in methylmalonic acidaemia. Eur J Pediatr 1991;150:259–263Lubrano R, Scoppi P, Barsotti P, Travasso E, Scateni S, Cristaldi S, Castello MA. Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure. Pediatr Nephrol 2001;16:848–851Lubrano R, Scoppi P, Barsotti P, Travasso E, Scateni S, Cristaldi S, Castello MA. Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure. Pediatr Nephrol 2001;16:848–851Vant Hoff WG, Dixon M, Taylor J et al. Combined liverkidney transplantation in methylmalonic acidemia. J Pediatr 1998;132:1043-1044Vant Hoff WG, Dixon M, Taylor J et al. Combined liverkidney transplantation in methylmalonic acidemia. J Pediatr 1998;132:1043-1044Morath MA, Hörster F, Sauer S.W. Renal dysfunction in methylmalonic acidurias: revier for the pediatric nephrologist. Pediatr. Nephrol 2013; 28:227-235Morath MA, Hörster F, Sauer S.W. Renal dysfunction in methylmalonic acidurias: revier for the pediatric nephrologist. Pediatr. Nephrol 2013; 28:227-235

The authors declare that there are no conflicts of interest present.