Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder

Sharma, Ajay; Greenberg, Cheryl R.; Prasad, Asuri N.; Prasad, Chitra

doi:10.1007/s00467-007-0604-1

Cited by 107 publications

(68 citation statements)

References 33 publications

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“…Excess homocystine and methylmalonate in urine is the first diagnostic sign. The Cbl-C defect is confirmed either by complementation studies on fibroblasts, or by genetic investigations of MMACHC mutations [100] .…”

Section: Diagnosismentioning

confidence: 90%

Update on hemolytic uremic syndrome: Diagnostic and therapeutic recommendations

Salvadori

Bertoni²

2013

WJN

116

111

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Hemolytic uremic syndrome (HUS) is a rare disease. In this work the authors review the recent findings on HUS, considering the different etiologic and pathogenetic classifications. New findings in genetics and, in particular, mutations of genes that encode the complement-regulatory proteins have improved our understanding of atypical HUS. Similarly, the complement proteins are clearly involved in all types of thrombotic microangiopathy: typical HUS, atypical HUS and thrombotic thrombocytopenic purpura (TTP). Furthermore, several secondary HUS appear to be related to abnormalities in complement genes in predisposed patients. The authors highlight the therapeutic aspects of this rare disease, examining both "traditional therapy" (including plasma therapy, kidney and kidneyliver transplantation) and "new therapies". The latter include anti-Shiga-toxin antibodies and anti-C5 monoclonal antibody "eculizumab". Eculizumab has been recently launched for the treatment of the atypical HUS, but it appears to be effective in the treatment of typical HUS and in TTP. Future therapies are in phases Ⅰ and Ⅱ. They include anti-C5 antibodies, which are more purified, less immunogenic and absorbed orally and, anti-C3 antibodies, which are more powerful, but potentially less safe. Additionally, infusions of recombinant complement-regulatory proteins are a potential future therapy.

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Section: Diagnosismentioning

confidence: 90%

Update on hemolytic uremic syndrome: Diagnostic and therapeutic recommendations

Salvadori

Bertoni²

2013

WJN

116

111

View full text Add to dashboard Cite

show abstract

“…All the coagulation studies for exclusion of DIC show normal results in HUS except D-Dimer showing elevation. Aminoacidogram of serum and urine showing homocystinuria, hyperhomocystinemia and methyl malonic aciduria with low serum levels of methionine highlights cobalamine metabolism defects [25]. Apart from DIC other causes of acute renal failure associated with MAHA and thrombocytopenia like SLE, malignant hypertension, APLA syndrome should be considered in the appropriate clinical setting and excluded by relevant laboratory studies like antinuclear antibody (ANA), anti-double stranded DNA (anti-ds DNA),APLA,C3, C4, etc.…”

Section: Pathogenesismentioning

confidence: 99%