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"original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 3462 "Ancho" => 2390 "Tamanyo" => 405309 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical course: laboratory data and treatment. Corticosteroid therapy was started with intravenous administration of methylprednisolone (1000<span class="elsevierStyleHsp" style=""></span>mg/day for 3 days) followed by oral prednisolone and an initial dosage of 60<span class="elsevierStyleHsp" style=""></span>mg/day. This dosage was maintained until the 53rd day after admission, with posterior tapering. Rituximab (arrows) was administered at a dose of 600<span class="elsevierStyleHsp" style=""></span>mg (375<span class="elsevierStyleHsp" style=""></span>mg/m2) on the 27th, 34th, 41st and 48th days after admission. Cyclophosphamide (arrowhead) was administered in a single dose of 1000<span class="elsevierStyleHsp" style=""></span>mg on the 61st day after admission (2nd day after readmission). Eculizumab was administered at a dose of 900<span class="elsevierStyleHsp" style=""></span>mg for a week for 4 weeks, started on the 158th day after admission, followed by a dosage of 1200<span class="elsevierStyleHsp" style=""></span>mg 1 week later an then a maintenance dose of 1200<span class="elsevierStyleHsp" style=""></span>mg every 2 weeks. This dosage is still being continued. We performed a total of 79 plasma exchange sessions. The last three laboratorial test results were done on the 270th, 340th and 466th days following first admission.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Emanuel Ferreira, Nuno Oliveira, Maria Marques, Luís Francisco, Ana Santos, Armando Carreira, Mário Campos" "autores" => array:7 [ 0 => array:2 [ "nombre" => "Emanuel" "apellidos" => "Ferreira" ] 1 => array:2 [ "nombre" => "Nuno" "apellidos" => "Oliveira" ] 2 => array:2 [ "nombre" => "Maria" "apellidos" => "Marques" ] 3 => array:2 [ "nombre" => "Luís" "apellidos" => "Francisco" ] 4 => array:2 [ "nombre" => "Ana" "apellidos" => "Santos" ] 5 => array:2 [ "nombre" => "Armando" "apellidos" => "Carreira" ] 6 => array:2 [ "nombre" => "Mário" "apellidos" => "Campos" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2013251416000079?idApp=UINPBA000064" "url" => "/20132514/0000003600000001/v2_201703300133/S2013251416000079/v2_201703300133/en/main.assets" ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Methylmalonic acidemia with emergency hypertension" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "75" "paginaFinal" => "76" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Bahareh Yaghmaei, Parastoo Rostami, Farnaz Najmi Varzaneh, Behdad Gharib, Behnaz Bazargani, Nima Rezaei" "autores" => array:6 [ 0 => array:3 [ "nombre" => "Bahareh" "apellidos" => "Yaghmaei" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:4 [ "nombre" => "Parastoo" "apellidos" => "Rostami" "email" => array:1 [ 0 => "drp_rostami@yahoo.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 2 => array:3 [ "nombre" => "Farnaz Najmi" "apellidos" => "Varzaneh" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 3 => array:3 [ "nombre" => "Behdad" "apellidos" => "Gharib" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 4 => array:3 [ "nombre" => "Behnaz" "apellidos" => "Bazargani" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 5 => array:3 [ "nombre" => "Nima" "apellidos" => "Rezaei" "referencia" => array:3 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 2 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] ] "afiliaciones" => array:4 [ 0 => array:3 [ "entidad" => "Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Research Center for Immunodeficiencies, Children's Medical Center, Tehran, Iran" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Universal Scientific Education and Research Network (USERN), Tehran, Iran" "etiqueta" => "d" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Acidemia metilmalónica con hipertensión de emergencia" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Methylmalonic acidemia (MMA) is a heterogeneous disorder of propionate metabolism. MMA is caused by deficiency of the mitochondrial enzyme, methylmalonyl-CoA mutase-apoenzyme activity (MUT) or defective in adenosylcobalamin (coenzyme) synthesis.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> The most patients with cblA and half patients with cblB forms of MMA are responsive to vitamin B12.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">2,3</span></a> Clinical manifestation of MMA may be acute or chronic. The acute form of the disease occurs during infancy and even as early as the second day of life with poor feeding, vomiting, dehydration, weight loss, temperature instability, lethargy, hypotonia, seizure and progressing to coma. Laboratory findings include: metabolic acidosis, ketosis, hypoglycemia, hyperlactatemia, hyperammonemia, pancytopenia.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">4</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Definitive diagnosis of isolated MMA is based on analysis of organic acids in plasma and/or urine; however genetic testing diagnosis in some condition is accessible to confirm the diagnosis of isolated MMA. Below, we describe the presentation and management of two cases of MMA with severe hypertention.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The first case was a 46-day-old girl, admitted to the emergency department because of generalized edema and severe hypertension. She was born from consanguineous parents at term with a birth weight 2.600<span class="elsevierStyleHsp" style=""></span>kg. She had frequent vomiting in 9th day of life. Edema of hands and feet appeared in 39th day of life. On admission, she had SBP 130<span class="elsevierStyleHsp" style=""></span>mmHg (above 99th), DBP 75<span class="elsevierStyleHsp" style=""></span>mmHg (above 99th), periorbital and legs pitting edema and respiratory distress. Laboratory findings included: microscopic hematuria, massive proteinuria, hypoalbominemia, pancytopenia and high anion gap metabolic acidosis.</p><p id="par0020" class="elsevierStylePara elsevierViewall">The patient was managed by nephrologists with diagnosis of congenital nephrotic syndrome. Angiography of abdominal aorta and renal artery were normal. She had brain atrophy and supra and infra tentorial ventricolomegaly in brain CT scan and left ventricular hypertrophy in echocardiography. Abdominal sonography was normal but both kidneys were seen larger than normal. Bone marrow aspiration (BMA) was performed because of pancytopenia which was normal. Patient's hypertension did not respond to Losartan, Hydralazine, Captopril and Amlodipine. Metabolic consulting and then metabolic tests due to refractory metabolic acidosis was done. The patient with suspected organic aciduria was treated with hydroxycobalamin 1<span class="elsevierStyleHsp" style=""></span>mg daily, biotin 10<span class="elsevierStyleHsp" style=""></span>mg daily and <span class="elsevierStyleSmallCaps">l</span>-carnitine 50<span class="elsevierStyleHsp" style=""></span>mg/kg/day. She had high level of glycine in blood amino acid chromatography but ammonia, lactate, serum B12 and hemocystein were normal. Methylmalonic aciduria confirmed with high level of urine methlmalonic acid and increased serum level of propionyl carnitine. We have increased the dose of B12 up to 2<span class="elsevierStyleHsp" style=""></span>mg IM daily but unfortunately, the patient died.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The second case was a 45-day-old boy admitted from the emergency ward with complaints of anemia, respiratory distress and severe hypertension. He was born from non-consanguineous parents at term with a birth weight 2.800<span class="elsevierStyleHsp" style=""></span>kg. The first baby of the family had died at the age of 5-months due to propionic aciduria. On examination he had respiratory distress (RR<span class="elsevierStyleHsp" style=""></span>=<span class="elsevierStyleHsp" style=""></span>67), SBP 134<span class="elsevierStyleHsp" style=""></span>mmHg (above 99th) and DBP 78<span class="elsevierStyleHsp" style=""></span>mmHg (above 99th) and mild pitting edema in legs. Laboratory results included: high anion gap metabolic acidosis, pancytopenia, hypoalbominemia, proteinuria, and microscopic hematuria. Lactate, ammonia, serum B12, serum hemocystein and other electrolytes were normal but serum glycine was increased. Renal artery disorder has been excluded by Doppler sonography. Abdominal sonography was normal but both kidneys had upper normal size and increased cortical echogenicity. BMA was performed because of pancytopenia which was normal. According to the familial history and our previous case, after sending samples for urine organic acid, acylcarnitine profile and chromatography of serum amino acid, B12 2<span class="elsevierStyleHsp" style=""></span>mg IM daily, carnitine 50<span class="elsevierStyleHsp" style=""></span>mg/kg/day, biotin 10<span class="elsevierStyleHsp" style=""></span>mg daily and low protein diet was started for the patient. His blood pressure was refractory to all of anti-hypertensive drugs such as Hydralazine, Captopril, Labetalol. Methylmalonic aciduria confirmed by increased of urine methylmalonic acid and serum propionyl carnitine. Despite early treatment of methylmalonic acid even without waiting for tests result, the patient died.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Chronic renal disease is a life-threatening complication of MMA and finally leads to dialysis or kidney transplantation. Renal impairment most occurs in patients with mut (0) and cblB mutation.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">5</span></a> The mechanism of renal injury in MMA is still unknown. Proximal tubular disorder is a main pathogenic mechanism of MMA-associated kidney disease.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">6</span></a> A recent case study has reported 2 cases of MMA associated with hemolytic uremic syndrome (HUS) association which revealed that probable pathogenesis of thrombotic microangiopathy could be related to the increase of plasma methylmalonic acid and homocysteine levels.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">7</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">In the current study, the two mentioned patients had MMA that confirmed with assessment of urine organic acid and acylcarnitine profile. They had just renal involvement that their symptom and signs were started during infancy that was refractory to all of the treatment and despite early treatment in the one of them, they died.</p><p id="par0040" class="elsevierStylePara elsevierViewall">In summary, in each case with hematuria, proteinuria, nephrotic syndrome, unexplained hypertension or renal failure of unknown origin especially in pediatric patients, metabolic screening and urinary organic acid analysis should be carried out as soon as possible.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar9005">Please cite this article as: Yaghmaei B, Rostami P, Varzaneh FN, Gharib B, Bazargani B, Rezaei N, et al. Methylmalonic acidemia with emergency hypertension. 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Year/Month | Html | Total | |
---|---|---|---|
2024 November | 12 | 7 | 19 |
2024 October | 74 | 46 | 120 |
2024 September | 61 | 22 | 83 |
2024 August | 71 | 63 | 134 |
2024 July | 43 | 23 | 66 |
2024 June | 74 | 40 | 114 |
2024 May | 60 | 26 | 86 |
2024 April | 57 | 21 | 78 |
2024 March | 41 | 28 | 69 |
2024 February | 41 | 30 | 71 |
2024 January | 25 | 31 | 56 |
2023 December | 32 | 36 | 68 |
2023 November | 44 | 40 | 84 |
2023 October | 44 | 37 | 81 |
2023 September | 38 | 24 | 62 |
2023 August | 54 | 25 | 79 |
2023 July | 53 | 27 | 80 |
2023 June | 58 | 21 | 79 |
2023 May | 59 | 34 | 93 |
2023 April | 31 | 16 | 47 |
2023 March | 43 | 23 | 66 |
2023 February | 33 | 18 | 51 |
2023 January | 31 | 25 | 56 |
2022 December | 54 | 32 | 86 |
2022 November | 38 | 28 | 66 |
2022 October | 58 | 47 | 105 |
2022 September | 43 | 28 | 71 |
2022 August | 61 | 49 | 110 |
2022 July | 37 | 46 | 83 |
2022 June | 61 | 38 | 99 |
2022 May | 57 | 27 | 84 |
2022 April | 90 | 53 | 143 |
2022 March | 62 | 49 | 111 |
2022 February | 58 | 41 | 99 |
2022 January | 52 | 41 | 93 |
2021 December | 34 | 44 | 78 |
2021 November | 48 | 39 | 87 |
2021 October | 46 | 37 | 83 |
2021 September | 40 | 27 | 67 |
2021 August | 35 | 29 | 64 |
2021 July | 22 | 32 | 54 |
2021 June | 36 | 22 | 58 |
2021 May | 37 | 32 | 69 |
2021 April | 88 | 25 | 113 |
2021 March | 51 | 33 | 84 |
2021 February | 49 | 31 | 80 |
2021 January | 36 | 15 | 51 |
2020 December | 42 | 30 | 72 |
2020 November | 28 | 15 | 43 |
2020 October | 24 | 16 | 40 |
2020 September | 27 | 11 | 38 |
2020 August | 33 | 6 | 39 |
2020 July | 30 | 11 | 41 |
2020 June | 30 | 9 | 39 |
2020 May | 28 | 6 | 34 |
2020 April | 25 | 19 | 44 |
2020 March | 19 | 7 | 26 |
2020 February | 25 | 22 | 47 |
2020 January | 27 | 14 | 41 |
2019 December | 21 | 19 | 40 |
2019 November | 20 | 18 | 38 |
2019 October | 16 | 5 | 21 |
2019 September | 25 | 15 | 40 |
2019 August | 20 | 17 | 37 |
2019 July | 24 | 23 | 47 |
2019 June | 22 | 15 | 37 |
2019 May | 19 | 17 | 36 |
2019 April | 60 | 33 | 93 |
2019 March | 28 | 20 | 48 |
2019 February | 15 | 14 | 29 |
2019 January | 27 | 19 | 46 |
2018 December | 151 | 38 | 189 |
2018 November | 225 | 17 | 242 |
2018 October | 279 | 15 | 294 |
2018 September | 113 | 13 | 126 |
2018 August | 70 | 18 | 88 |
2018 July | 94 | 12 | 106 |
2018 June | 120 | 18 | 138 |
2018 May | 128 | 11 | 139 |
2018 April | 176 | 12 | 188 |
2018 March | 176 | 8 | 184 |
2018 February | 86 | 6 | 92 |
2018 January | 67 | 7 | 74 |
2017 December | 76 | 12 | 88 |
2017 November | 50 | 12 | 62 |
2017 October | 34 | 10 | 44 |
2017 September | 23 | 5 | 28 |
2017 August | 26 | 11 | 37 |
2017 July | 26 | 12 | 38 |
2017 June | 32 | 5 | 37 |
2017 May | 46 | 5 | 51 |
2017 April | 39 | 12 | 51 |
2017 March | 30 | 16 | 46 |
2017 February | 27 | 15 | 42 |
2017 January | 17 | 17 | 34 |
2016 December | 28 | 4 | 32 |
2016 November | 39 | 19 | 58 |
2016 October | 43 | 8 | 51 |
2016 September | 80 | 5 | 85 |
2016 August | 66 | 2 | 68 |
2016 July | 117 | 14 | 131 |
2016 June | 93 | 0 | 93 |
2016 May | 104 | 0 | 104 |
2016 April | 51 | 0 | 51 |