Skip to main content
Log in

An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers

  • Clinical Quiz
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Abbreviations

ARC:

Arthrogryposis, renal dysfunction, and cholestasis

RTA:

Renal tubular acidosis

DI:

Diabetes insipidus

SNARE:

Soluble N-ethylmaleimide-sensitive factor attachment protein receptor

eGFR:

Estimated glomerular filtration rate

TmP:

Maximum tubular reabsorption of phosphate

References

  1. Gissen P, Johnson CA, Morgan NV et al (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet 36(4):400–404

    Article  CAS  Google Scholar 

  2. Cullianne AR, Straatman-Iwanowska A, Seo JK et al (2009) Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. Hum Mutat 30(2):E330–E337

    Article  Google Scholar 

  3. Zhou Y, Zhang J (2014) Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. Ital J Pediatr 40:77

    Article  Google Scholar 

  4. Smith H, Galmes R, Gogolina E et al (2018) Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Hum Mutat 33(12):1656–1664

    Article  Google Scholar 

  5. Holme A, Hurcombe JA, Straatman-Iwanowska A et al (2013) Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome. Clin Kidney J 6:183–188

    Article  CAS  Google Scholar 

  6. Rosales A, Mhibik M, Gissen P et al (2018) Severe renal Fanconi and management strategies in athrogryposis-renal dysfunction-cholestasis syndrome: a case report. BMC Nephrol 19:144

    Article  Google Scholar 

  7. Weyand AC, Lombel RM, Pipe SW et al (2016) The role of platelets and –aminocaproic acid in athrogryposis, renal dysfunction, cholestasis syndrome (ARC) syndrome associated hemorrhage. Pediatr Blood Cancer 63:561–563

    Article  CAS  Google Scholar 

  8. Eastham KM, McKiernan PJ et al (2001) ARC syndrome: an expanding range of phenotypes. Arch Dis Child 85:415–420

    Article  CAS  Google Scholar 

  9. Dehghani SM, Bahador A, Nikeghbalian S et al (2013) Liver transplant in a case of athrogryposis-renal dysfunction-cholestasis syndrome with severe intractable pruritus. Exp Clin Transplant (3):290–292

    Article  Google Scholar 

  10. Gissen P, Tee L, Johnson CA et al (2006) Clinical and molecular genetic features of ARC syndrome. Hum Genet 120:396–409

    Article  CAS  Google Scholar 

  11. Jang JY, Kim KM, Kim G-H et al (2009) Clinical characteristics and VPS33B mutation in patients with ARC syndrome. JPGN 48(3):348–354

    PubMed  Google Scholar 

  12. Malaki M, Mandana R, Ghaffari S (2012) ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. Saudi J Kidney Dis Transplant 23(4):804–809

    Article  Google Scholar 

  13. Arhan E, Yusufoglu AM, Sayli TR (2009) ARC syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. Eur JPediatr 168:995–998

    Article  Google Scholar 

  14. Kim SM, Chang HK, Song JW et al (2010) Agranular platelets as a cardinal feature of ARC syndrome. J Pediatr Hematol Oncol 32(4):253–258

    Article  Google Scholar 

  15. Lo B, Gissen P, Christensen H et al (2005) Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood 106(13):4159–4166

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Minh Dien Duong.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This refers to the article that can be found at https://doi.org/10.1007/s00467-019-04336-1.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Duong, M.D., Rose, C.M., Reidy, K.J. et al. An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers. Pediatr Nephrol 35, 249–251 (2020). https://doi.org/10.1007/s00467-019-04338-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-019-04338-z

Keywords

Navigation