Cobalamin C defect associated with hemolytic-uremic syndrome

Geraghty, Michael T.; Perlman, Elizabeth J.; Martin, Laura S.; Hayflick, Susan J.; Casella, James F.; Rosenblatt, David S.; Valle, David

doi:10.1016/s0022-3476(05)81967-5

Cited by 93 publications

(70 citation statements)

References 5 publications

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“…Cardiac manifestations of cblC disease have been described and include several congenital abnormalities (Andersson et al 1999;Martinelli et al 2010;Profitlich et al 2009), cardiomyopathy (Martinelli et al 2010;Profitlich et al 2009), and endocardial fibrosis (Baumgartner et al 1979;Geraghty et al 1992;McCully 1969). At least 15 patients with cblC have been reported with cardiomyopathy (Table 1; Baumgartner et al 1979;Brandstetter et al 1990;Carmel et al 1980;Chenel et al 1993;De Bie et al 2009;Longo et al 2005;Geraghty et al 1992;Ogier de Baulny et al 1998;Profitlich et al 2009).…”

Section: Discussionmentioning

confidence: 99%

“…At least 15 patients with cblC have been reported with cardiomyopathy (Table 1; Baumgartner et al 1979;Brandstetter et al 1990;Carmel et al 1980;Chenel et al 1993;De Bie et al 2009;Longo et al 2005;Geraghty et al 1992;Ogier de Baulny et al 1998;Profitlich et al 2009). However, the specifics regarding the type and echocardiographic manifestations of the cardiac lesions have not been fully delineated.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Tanpaiboon

Sloan

Callahan³

et al. 2012

JIMD Reports

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Cobalamin C disease (cblC), a form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in the MMACHC gene, may be the most common inborn error of intracellular cobalamin metabolism. The clinical manifestations of cblC disease are diverse and range from intrauterine growth retardation to adult onset neurological disease. The occurrence of structural heart defects appears to be increased in cblC patients and may be related to the function of the MMACHC enzyme during cardiac embryogenesis, a concept supported by the observation that Mmachc is expressed in the bulbis cordis of the developing mouse heart. Here we report an infant who presented with hydrops fetalis, ventricular dysfunction, and echocardiographic evidence of LVNC, a rare congenital cardiomyopathy. Metabolic evaluations, complementation studies, and mutation analysis confirmed the diagnosis of cblC disease. These findings highlight an intrauterine cardiac phenotype that can be displayed in cblC disease in association with nonimmune hydrops.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Tanpaiboon

Sloan

Callahan³

et al. 2012

JIMD Reports

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“…Sie führt zu einer stoffwechselvermittelten TMA [10]. Ursache dieser Erkrankung sind homozygote oder compound-heterozygote Mutationen im Gen für das Methylmalonic-aciduriaand-homocysteinuria-type-C-Protein (MMACHC).…”

Section: Cobalamin-c-defizienzunclassified

Thrombotische Mikroangiopathien

Gaggl¹,

Aigner²,

Sunder‐Plassmann³

et al. 2016

Med Klin Intensivmed Notfmed

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“…Отдельные редкие случаи у младенцев (метилмалоновая ацидемия) -это результат наследственной аномалии внутриклеточного метаболизма кобаламина (витамин B 12 ) [4]. По данным различных исследований, распространенность аГУС колеблется от 1 до 7 случаев на 1 000 000 населения.…”

Section: эпидемиологияunclassified

“…Реже инфекционными стимулами служат шигеллы и пневмококки. Другая форма ГУС, назы-ваемая атипичной, встречается гораздо реже (5-10% всех случаев) и является результатом аномалии (чаще генетической) белков, регулирующих процесс активации комплемента [3][4][5].…”

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Federal Clinical Guidelines on Rendering Help to Children with Hemolytic Uremic Syndrome

Цыгин¹,

Vashurina²,

Маргиева³

et al. 2015

Pediatr. farmakol.

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Научный центр здоровья детей, Москва, Российская ФедерацияГемолитико-уремический синдром (ГУС) The hemolytic uremic syndrome (HUS) is a serious therapeutic problem in pediatrics and pediatric nephrology. HUS is one of the leading causes of acute renal failure with the potential of transforming into terminal chronic renal failure at various periods from the disease onset. The typical form of HUS with a diarrheal prodrome associated with Shiga toxin (STEC) is the most common form. Despite this fact, it requires careful confirmation of infectious etiology to exclude atypical HUS and HUS associated with pneumococcal infection in time.In respect of STEC-HUS it is recommended to conduct adequate symptomatic therapy with a timely dialysis connection if needed. The prognosis here will depend on the anuretic period duration and on the related central nervous system injuries. Atypical HUS is often based on genetic mutations leading to the complement cascade disfunction with uncontrolled activation of the alternative pathway. The overall prognosis for this prone to recurrence form is unfavourable, however, it is recommended to conduct aeculizumabum treatment which will block the terminal components of the complement cascade.

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Cobalamin C defect associated with hemolytic-uremic syndrome

Cited by 93 publications

References 5 publications

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Thrombotische Mikroangiopathien

Federal Clinical Guidelines on Rendering Help to Children with Hemolytic Uremic Syndrome

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