Skip to main content

Advertisement

Log in

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: 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.

Fig. 1
Fig. 2
Fig. 3

References

  1. Kari JA, Montini G, Bockenhauer D, Brennan E, Rees L, Trompeter RS, Tullus K, Van't Hoff W, Waters A, Ashton E, Lench N, Sebire NJ, Marks SD (2014) Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years. Pediatr Nephrol 29:2173–2180

    Article  PubMed  PubMed Central  Google Scholar 

  2. Lionel AP, Joseph LK, Simon A (2014) Pierson syndrome—a rare cause of congenital nephrotic syndrome. Indian J Pediatr 81:1416–1417

    Article  PubMed  Google Scholar 

  3. Goldenberg A, Ngoc LH, Thouret MC, Cormier-Daire V, Gagnadoux MF, Chretien D, Lefrancois C, Geromel V, Rotig A, Rustin P, Munnich A, Paquis V, Antignac C, Gubler MC, Niaudet P, de Lonlay P, Berard E (2005) Respiratory chain deficiency presenting as congenital nephrotic syndrome. Pediatr Nephrol 20:465–469

    Article  PubMed  Google Scholar 

  4. Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, Kreft M, van Eerde AM, Pfundt R, Terhal PA, van der Zwaag B, Nikkels PG, Sachs N, Goldschmeding R, Knoers NV, Renkema KY, Sonnenberg A (2012) Gain of glycosylation in integrin alpha3 causes lung disease and nephrotic syndrome. J Clin Invest 122:4375–4387

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Guo AH, Lu M (2007) Two cases of congenital nephrotic syndrome resulting from cytomegalovirus infection. Zhonghua Er Ke Za Zhi 45:872–873

    PubMed  Google Scholar 

  6. Rahman H, Begum A, Jahan S, Muinuddin G, Hossain MM (2008) Congenital nephrotic syndrome, an uncommon presentation of cytomegalovirus infection. Mymensingh Med J 17:210–213

    CAS  PubMed  Google Scholar 

  7. Xiao HJ, Liu JC, Zhong XH (2011) Congenital syphilis presenting congenital nephrotic syndrome in two children and related data review. Beijing Da Xue Xue Bao 43:911–913

    PubMed  Google Scholar 

  8. Marquardt T, Denecke J (2003) Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 162:359–379

    CAS  PubMed  Google Scholar 

  9. Jalanko H (2009) Congenital nephrotic syndrome. Pediatr Nephrol 24:2121–2128

    Article  PubMed  Google Scholar 

  10. Avni EF, Vandenhoute K, Devriendt A, Ismaili K, Hackx M, Janssen F, Hall M (2011) Update on congenital nephrotic syndromes and the contribution of US. Pediatr Radiol 41:76–81

    Article  PubMed  Google Scholar 

  11. Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T (2004) Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. Am J Hum Genet 74:545–551

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Yan K, Khoshnoodi J, Ruotsalainen V, Tryggvason K (2002) N-linked glycosylation is critical for the plasma membrane localization of nephrin. J Am Soc Nephrol 13:1385–1389

    Article  CAS  PubMed  Google Scholar 

  13. Strom EH, Stromme P, Westvik J, Pedersen SJ (1993) Renal cysts in the carbohydrate-deficient glycoprotein syndrome. Pediatr Nephrol 7:253–255

    Article  CAS  PubMed  Google Scholar 

  14. Perez-Duenas B, Garcia-Cazorla A, Pineda M, Poo P, Campistol J, Cusi V, Schollen E, Matthijs G, Grunewald S, Briones P, Perez-Cerda C, Artuch R, Vilaseca MA (2009) Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations. Eur J Paediatr Neurol 13:444–451

    Article  CAS  PubMed  Google Scholar 

  15. Dagan A, Cleper R, Krause I, Blumenthal D, Davidovits M (2012) Hypothyroidism in children with steroid-resistant nephrotic syndrome. Nephrol Dial Transplant 27:2171–2175

    Article  CAS  PubMed  Google Scholar 

  16. Iglesias P, Diez JJ (2009) Thyroid dysfunction and kidney disease. Eur J Endocrinol 160:503–515

    Article  CAS  PubMed  Google Scholar 

  17. Donadio S, Pascual A, Thijssen JH, Ronin C (2006) Feasibility study of new calibrators for thyroid-stimulating hormone (TSH) immunoprocedures based on remodeling of recombinant TSH to mimic glycoforms circulating in patients with thyroid disorders. Clin Chem 52:286–297

    Article  CAS  PubMed  Google Scholar 

  18. Szkudlinski MW, Thotakura NR, Bucci I, Joshi LR, Tsai A, East-Palmer J, Shiloach J, Weintraub BD (1993) Purification and characterization of recombinant human thyrotropin (TSH) isoforms produced by Chinese hamster ovary cells: the role of sialylation and sulfation in TSH bioactivity. Endocrinology 133:1490–1503

    CAS  PubMed  Google Scholar 

  19. Zuhlsdorf A, Park JH, Wada Y, Rust S, Reunert J, DuChesne I, Gruneberg M, Marquardt T (2014) Transferrin variants: pitfalls in the diagnostics of congenital disorders of glycosylation. Clin Biochem 48:11–13

    Article  PubMed  Google Scholar 

  20. Rohlfing AK, Rust S, Reunert J, Tirre M, Du Chesne I, Wemhoff S, Meinhardt F, Hartmann H, Das AM, Marquardt T (2014) ALG1-CDG: a new case with early fatal outcome. Gene 534:345–351

    Article  CAS  PubMed  Google Scholar 

  21. Hutchesson AC, Gray RG, Spencer DA, Keir G (1995) Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay. Arch Dis Child 72:445–446

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. van der Knaap MS, Wevers RA, Monnens L, Jakobs C, Jaeken J, van Wijk JA (1996) Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 19:787–791

    Article  PubMed  Google Scholar 

  23. de Vries BB, van'tHoff WG, Surtees RA, Winter RM (2001) Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. Clin Dysmorphol 10:115–121

    Article  PubMed  Google Scholar 

  24. Sinha MD, Horsfield C, Komaromy D, Booth CJ, Champion MP (2009) Congenital disorders of glycosylation: a rare cause of nephrotic syndrome. Nephrol Dial Transplant 24:2591–2594

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Thorsten Marquardt.

Additional information

This article refers to the article that can be found at http://dx.doi.org/10.1007/s00467-015-3071-0

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Park, J.H., Weissensteiner, M., Wagner, O. et al. Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers. Pediatr Nephrol 31, 1283–1286 (2016). https://doi.org/10.1007/s00467-015-3070-1

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-015-3070-1

Keywords

Navigation