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We present two cases diagnosed in our department&#44; who died from atypical haemolytic uraemic syndrome &#40;HUS&#41; associated with severe kidney failure&#46;</p><p class="elsevierStylePara">The first case was a 25-day-old male&#44; admitted due to bilious vomiting and liquid bowel movements which had started four days earlier&#46; He was the second son of first-cousin parents&#46; On admission he presented mild malnutrition&#44; hypotonia and hypoactivity&#46; He had normochloraemic metabolic acidosis&#46; Following slight improvement on being subjected to complete fasting&#44; feeding was started&#59; poor tolerance&#44; neurological deterioration&#44; pancytopenia and liver and renal failure were observed&#46;</p><p class="elsevierStylePara">Subsequently&#44; on initiating parenteral nutrition&#44; microangiopathic anaemia was reported together with increased thrombocytopenia &#40;haemoglobin 6&#46;7&#160;g&#47;l&#44; platelets 10&#44;000&#47;mm<span class="elsevierStyleSup">3</span>&#41; and worsening of renal failure&#46; Atypical HUS was diagnosed&#46; In addition&#44; he experienced various convulsive episodes&#44; with encephalopathic findings in the electro-encephalogram&#46; He died 20 days after admission with severe kidney failure &#40;creatinine 1&#46;3mg&#47;dl&#44; urea 193mg&#47;dl&#44; potassium 6&#46;6mEq&#47;l&#41;&#46;</p><p class="elsevierStylePara">The second case was a 24-day-old male&#44; who was taken to hospital due to 7&#37; weight loss following birth&#44; hypotonia and general malaise&#46; The parents were also first cousins&#46; He was admitted with a diagnosis of suspected sepsis &#40;increase of acute-phase reactants and positive haemoculture for coagulase-positive staphylococcus&#41;&#46; He also had normochloraemic metabolic acidosis&#46; Antibiotics were prescribed and the patient continued with complete fasting&#44; with good clinical response&#46; Poor tolerance&#44; respiratory difficulty&#44; neurological deterioration&#44; pancytopenia and liver failure were observed on beginning nutrition&#46; At that time&#44; he was diagnosed with dilated myocardiopathy with reduced ejection fraction&#44; which normalised after suspending nutrition&#46; Parenteral nutrition was subsequently started&#44; when kidney failure occurred &#40;oligoanuria&#44; creatinine 1mg&#47;dl&#44; urea 90mg&#47;dl&#41;&#44; accompanied by anaemia and thrombopenia &#40;haemoglobin 7&#46;7g&#47;l&#44; platelets 21&#44;000&#47;mm<span class="elsevierStyleSup">3</span>&#41;&#46; Therefore&#44; continuous venovenous haemofiltration was started&#46; Although the presence of schistocytes was unknown&#44; we suspected that he suffered from atypical HUS&#46; Cerebral echography showed severe cortical atrophy&#46; 30 days after admission the diagnosis of methylmalonic acidemia with homocystinuria was confirmed&#46; Given the unfavourable prognosis&#44; we decided upon a limitation of therapeutic effort&#46;</p><p class="elsevierStylePara">The most noteworthy data from the metabolic and genetic study of both patients&#44; required for diagnosis&#44; are shown in Table 1&#46; Our patients were suffering from the most common variant of the disease &#40;cblC&#41;&#44; which is caused by homozygous or compound heterozygous mutations in the MMACHC gene &#91;methylmalonic aciduria &#40;cobalamin deficiency&#41; cblC type&#44; with homocystinuria&#93;&#44; which is located on the 1p34 chromosome&#46;</p><p class="elsevierStylePara">A symptom-free period is typical in methylmalonic acidemia with homocystinuria&#44; since for clinical symptoms to appear&#44; protein intake is required&#44; with the consequential accumulation of methylmalonic acid and homocysteine&#46; This explains why&#44; in our patients&#44; deterioration was observed on restarting feeding&#44; whether enteral or parenteral&#46; At times&#44; there was a larvate clinical sign which was precipitated by intercurrent disease&#44; often an infection&#44; as occurred in case 2&#46; Dilated myocardiopathy &#40;case 2&#41; is also described as a complication&#44; of which a case diagnosed prenatally was reported<span class="elsevierStyleSup">2</span>&#44; as well as other cardiac disturbances in relation to thromboembolisms&#46;</p><p class="elsevierStylePara">The pathogenesis of thrombotic microangiopathy is related to the increase of plasma methylmalonic acid and homocysteine levels&#46; The latter modifies the vascular endothelial&#8217;s antithrombatic properties by interfering in the inhibition of platelet aggregation mediated by nitric oxide&#44; which favours the union of the tissue plasminogen activator with the endothelial&#46; This results in an increase of the endothelial expression of procoagulants&#46; In addition&#44; homocysteine thiolactone&#44; homocysteine metabolite&#44; can cause cell damage by inducing intracellular accumulation of free radicals and methylmalonic acid can interfere in the mitochondrial metabolism of renal cells&#46; Association with HUS is uncommon&#44; although described&#44; above all&#44; in newborns<span class="elsevierStyleSup">3&#44;4</span>&#44; as was confirmed in case 1 and suspected in case 2&#46; At birth&#44; many patients already have kidney failure&#44; which could be reversible with early treatment &#40;hydroxocobalamin&#44; trimethylglycine&#44; folate and protein restriction&#41;&#44; which did not occur in our cases given the late diagnosis<span class="elsevierStyleSup">4&#44;5</span>&#46; Consequently&#44; early clinical suspicion is fundamental for trying to improve renal function as much as possible&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflicts of interest</span></p><p class="elsevierStylePara">The authors declare that they have no conflicts of interest related to the contents of this article&#46;</p><p class="elsevierStylePara"><a href="grande&#47;12058&#95;16025&#95;60178&#95;en&#95;t112058&#46;jpg" class="elsevierStyleCrossRefs"><img src="12058_16025_60178_en_t112058.jpg" alt="Biochemical and genetic data"></img></a></p><p class="elsevierStylePara">Table 1&#46; 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Methylmalonic acidemia with homocystinuria. A very rare cause of kidney failure in the neonatal period
Aciduria metilmalónica con homocistinuria. Una causa muy poco frecuente de fallo renal en el período neonatal
Orlando Mesa-Medinaa, Mónica Ruiz-Ponsa, Víctor García-Nietoa, José León-Gonzáleza, Santiago López-Mendozaa, Carlos Solís-Reyesa
a Departamento de Pediatría, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife,
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    "textoCompleto" => "<p class="elsevierStylePara">To the Editor&#44;</p><p class="elsevierStylePara">Methylmalonic acidemia with homocystinuria &#40;MMAH&#41; is a rare congenital metabolic and heterogeneous disorder affecting vitamin B12 or cobalamin &#40;cbl&#41; metabolism&#46; The disorder causes a reduction in the levels of adenosyl and methylcobalamin coenzymes&#44; in turn reducing the activity of their respective enzymes&#44; methylmalonyl-CoA mutase and methionine synthase&#46; This results in the accumulation of methylmalonic acid and homocysteine in the blood and tissues&#44; with an increase in the urinary excretion of both compounds<span class="elsevierStyleSup">1</span>&#46; Various forms of the disease have been described&#58; cblC&#44; cblD and cblF&#46; Neonatal presentation of this condition includes failure to thrive&#44; encephalopathy&#44; psychomotor retardation&#44; haematological abnormalities of the three series and renal damage<span class="elsevierStyleSup">1</span>&#46; We present two cases diagnosed in our department&#44; who died from atypical haemolytic uraemic syndrome &#40;HUS&#41; associated with severe kidney failure&#46;</p><p class="elsevierStylePara">The first case was a 25-day-old male&#44; admitted due to bilious vomiting and liquid bowel movements which had started four days earlier&#46; He was the second son of first-cousin parents&#46; On admission he presented mild malnutrition&#44; hypotonia and hypoactivity&#46; He had normochloraemic metabolic acidosis&#46; Following slight improvement on being subjected to complete fasting&#44; feeding was started&#59; poor tolerance&#44; neurological deterioration&#44; pancytopenia and liver and renal failure were observed&#46;</p><p class="elsevierStylePara">Subsequently&#44; on initiating parenteral nutrition&#44; microangiopathic anaemia was reported together with increased thrombocytopenia &#40;haemoglobin 6&#46;7&#160;g&#47;l&#44; platelets 10&#44;000&#47;mm<span class="elsevierStyleSup">3</span>&#41; and worsening of renal failure&#46; Atypical HUS was diagnosed&#46; In addition&#44; he experienced various convulsive episodes&#44; with encephalopathic findings in the electro-encephalogram&#46; He died 20 days after admission with severe kidney failure &#40;creatinine 1&#46;3mg&#47;dl&#44; urea 193mg&#47;dl&#44; potassium 6&#46;6mEq&#47;l&#41;&#46;</p><p class="elsevierStylePara">The second case was a 24-day-old male&#44; who was taken to hospital due to 7&#37; weight loss following birth&#44; hypotonia and general malaise&#46; The parents were also first cousins&#46; He was admitted with a diagnosis of suspected sepsis &#40;increase of acute-phase reactants and positive haemoculture for coagulase-positive staphylococcus&#41;&#46; He also had normochloraemic metabolic acidosis&#46; Antibiotics were prescribed and the patient continued with complete fasting&#44; with good clinical response&#46; Poor tolerance&#44; respiratory difficulty&#44; neurological deterioration&#44; pancytopenia and liver failure were observed on beginning nutrition&#46; At that time&#44; he was diagnosed with dilated myocardiopathy with reduced ejection fraction&#44; which normalised after suspending nutrition&#46; Parenteral nutrition was subsequently started&#44; when kidney failure occurred &#40;oligoanuria&#44; creatinine 1mg&#47;dl&#44; urea 90mg&#47;dl&#41;&#44; accompanied by anaemia and thrombopenia &#40;haemoglobin 7&#46;7g&#47;l&#44; platelets 21&#44;000&#47;mm<span class="elsevierStyleSup">3</span>&#41;&#46; Therefore&#44; continuous venovenous haemofiltration was started&#46; Although the presence of schistocytes was unknown&#44; we suspected that he suffered from atypical HUS&#46; Cerebral echography showed severe cortical atrophy&#46; 30 days after admission the diagnosis of methylmalonic acidemia with homocystinuria was confirmed&#46; Given the unfavourable prognosis&#44; we decided upon a limitation of therapeutic effort&#46;</p><p class="elsevierStylePara">The most noteworthy data from the metabolic and genetic study of both patients&#44; required for diagnosis&#44; are shown in Table 1&#46; Our patients were suffering from the most common variant of the disease &#40;cblC&#41;&#44; which is caused by homozygous or compound heterozygous mutations in the MMACHC gene &#91;methylmalonic aciduria &#40;cobalamin deficiency&#41; cblC type&#44; with homocystinuria&#93;&#44; which is located on the 1p34 chromosome&#46;</p><p class="elsevierStylePara">A symptom-free period is typical in methylmalonic acidemia with homocystinuria&#44; since for clinical symptoms to appear&#44; protein intake is required&#44; with the consequential accumulation of methylmalonic acid and homocysteine&#46; This explains why&#44; in our patients&#44; deterioration was observed on restarting feeding&#44; whether enteral or parenteral&#46; At times&#44; there was a larvate clinical sign which was precipitated by intercurrent disease&#44; often an infection&#44; as occurred in case 2&#46; Dilated myocardiopathy &#40;case 2&#41; is also described as a complication&#44; of which a case diagnosed prenatally was reported<span class="elsevierStyleSup">2</span>&#44; as well as other cardiac disturbances in relation to thromboembolisms&#46;</p><p class="elsevierStylePara">The pathogenesis of thrombotic microangiopathy is related to the increase of plasma methylmalonic acid and homocysteine levels&#46; The latter modifies the vascular endothelial&#8217;s antithrombatic properties by interfering in the inhibition of platelet aggregation mediated by nitric oxide&#44; which favours the union of the tissue plasminogen activator with the endothelial&#46; This results in an increase of the endothelial expression of procoagulants&#46; In addition&#44; homocysteine thiolactone&#44; homocysteine metabolite&#44; can cause cell damage by inducing intracellular accumulation of free radicals and methylmalonic acid can interfere in the mitochondrial metabolism of renal cells&#46; Association with HUS is uncommon&#44; although described&#44; above all&#44; in newborns<span class="elsevierStyleSup">3&#44;4</span>&#44; as was confirmed in case 1 and suspected in case 2&#46; At birth&#44; many patients already have kidney failure&#44; which could be reversible with early treatment &#40;hydroxocobalamin&#44; trimethylglycine&#44; folate and protein restriction&#41;&#44; which did not occur in our cases given the late diagnosis<span class="elsevierStyleSup">4&#44;5</span>&#46; Consequently&#44; early clinical suspicion is fundamental for trying to improve renal function as much as possible&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflicts of interest</span></p><p class="elsevierStylePara">The authors declare that they have no conflicts of interest related to the contents of this article&#46;</p><p class="elsevierStylePara"><a href="grande&#47;12058&#95;16025&#95;60178&#95;en&#95;t112058&#46;jpg" class="elsevierStyleCrossRefs"><img src="12058_16025_60178_en_t112058.jpg" alt="Biochemical and genetic data"></img></a></p><p class="elsevierStylePara">Table 1&#46; Biochemical and genetic data</p>"
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