Renal failure, respiratory distress, and an atypical purpuric rash in a full-term infant with omphalocele and hypospadias: Answers
What is the differential diagnosis for this pathology?
Given the unique presenting symptoms and noted congenital anomalies, an expansive differential was generated. The presence of an intracardiac lesion with concurrent lower extremity purpuric rashes prompted providers to consider endocarditis as an etiology. Initially, concern for infectious endocarditis complicated by embolic cascade and acute kidney injury was high. A non-cardiac source of infection complicated by disseminated intravascular coagulation (DIC) was also postulated. Hereditary thrombophilia with subsequent renal artery thrombosis and/or adrenal infarct was possible as well. Additionally, although unusual in this population, vasculitis was considered due to the appearance of the nearly symmetric purpuric rash on the infant’s bilateral feet. Congenital adrenal hyperplasia was briefly discussed due to the pattern of electrolyte abnormalities, although this was ultimately attributed to acute renal failure.
KeywordsNeonate Infant Atypical HUS Complement-mediated HUS Complement factor H (CFH) Eculizumab
Atypical hemolytic uremic syndrome
Hemolytic uremic syndrome
Shiga toxin-producing Escherichia coli
Membrane attack complex
Blood urea nitrogen
White blood cells
Disseminated intravascular coagulation
Complement factor H
Membrane cofactor protein
Cluster of differentiation 46
Complement component 5
A disintegrin-like and metalloproteinase with thrombospondin 13
Thrombotic thrombocytopenic purpura
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflicts of interest.
Family provided consent for the patient included in this manuscript.
- 1.Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G (2010) Relative role of genetic complement abnormalities in the sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol 5:1844–1859CrossRefGoogle Scholar
- 2.Westra D, Volokhina E, van der Heijden E, Vos A, Huigen M, Jansen J, van Kaauwen E, van der Velden T, van de Kar N, van den Heuvel L (2010) Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS). Nephrol Dial Transplant 25:2195–2202CrossRefGoogle Scholar
- 3.Esparza-Gordillo J, Goicoechea de Jorge E, Buil A, Carreras Berges L, López-Trascasa M, Sánchez-Corral P, Rodríguez de Córdoba S (2005) Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Hum Mol Genet 14:703–712CrossRefGoogle Scholar
- 4.Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G, International Registry of Recurrent and Familial HUS/TTP (2006) Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 108:1267–1279CrossRefGoogle Scholar
- 7.Fremeaux-Bacchi V, Fakhouri F, Garnier A, Bienaimé F, Dragon-Durey MA, Ngo S, Moulin B, Servais A, Provot F, Rostaing L, Burtey S, Niaudet P, Deschênes G, Lebranchu Y, Zuber J, Loirat C (2013) Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. Clin J Am Soc Nephrol 8:554–562CrossRefGoogle Scholar
- 8.European Medicines Agency. Soliris (Eculizumab): EU Summary of product characteristics. [Last accessed on 2019 April 18]. Available from: http://www.ema.europa.eu/docs/en-GB/document-library/EPAR-product-information/human/000791/WC500054208.pdf
- 9.Alexion Pharmaceuticals, Inc. Soliris (Eculizumab): US prescribing information. 2011. [Last accessed on 2019 April 18]. Available from: https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125166s422lbl.pdf
- 12.Loirat C, Fakhouri F, Ariceta G, Besbas N, Bitzan M, Bjerre A, Coppo R, Emma F, Johnson S, Karpman D, Landau D, Langman CB, Lapeyraque AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Frémeaux-Bacchi V, HUS International (2016) An international consensus approach to the management of atypical hemolytic uremic syndrome in children. Pediatr Nephrol 31:15–39CrossRefGoogle Scholar
- 13.Bresin E, Daina E, Noris M, Castelletti F, Stefanov R, Hill P, Goodship TH, Remuzzi G, International Registry of Recurrent and Familial HUS/TTP (2006) Outcome of renal transplantation in patients with non-Shiga toxin associated hemolytic uremic syndrome: prognostic significance of genetic background. Clin J Am Soc Nephrol 1:88–99CrossRefGoogle Scholar