Advertisement

Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association

  • Gurinder KumarEmail author
  • Rajendran Nair
  • Bassem Soliman Hendawy
  • Omar Ahmed AlShkeili
  • Ahmed Abdulla Alabdouli
  • Adnan Mohamed Al Ali
  • Amal Mohamed Jasem AlTenaiji
Case Report

Abstract

Metabolic disorders, although rare, can involve multiple organ systems and have a varied presentation. Renal involvement has been reported in several metabolic disorders in the pediatric age group. We report a rare metabolic disorder, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, in a child who developed steroid-resistant nephrotic syndrome at the age of 5 years. Renal biopsy showed features of collapsing glomerulopathy. The child had progressive chronic kidney disease. Alternative immunosuppressants including tacrolimus failed to show any clinical improvement. There have been no reports of children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency developing steroid-resistant nephrotic syndrome and collapsing glomerulopathy. This case highlights the need to monitor renal function and proteinuria among this group of children.

Keywords

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Child Nephrotic syndrome Collapsing glomerulopathy 

Notes

Author contributions

GK planned, conducted, and reported the work described in the article. RN was involved in conception and design of the case report. GK and RN clinically managed the child. BSH reviewed the histopathology slides of renal biopsy. OAA, AAA, AMAA drafted the article. AMJA critically reviewed the manuscript. AT will act as guarantor of the paper.

Funding

None.

Compliance with ethical standards

Conflict of interest

All Authors declare that they have no conflict of interest.

References

  1. 1.
    Raval DB, Cusmano-Ozog KP, Ayyub O, Jenevein C, Kofman LH, Lanpher B, et al. Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis. Mol Genet Metab Rep. 2016;10:8–10.CrossRefGoogle Scholar
  2. 2.
    Tyni T, Rapola J, Palotie A, Pihko H. Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation. J Pediatr. 1997;131(5):766–8.CrossRefGoogle Scholar
  3. 3.
    Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, et al. Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy. Am J Med Genet A. 2014;164A(5):1180–7.CrossRefGoogle Scholar
  4. 4.
    Schwimmer JA, Markowitz GS, Valeri A, Appel GB. Collapsing glomerulopathy. Semin Nephrol. 2003;23:209–18.CrossRefGoogle Scholar
  5. 5.
    Gulati A, Sharma A, Hari P, Dinda AK, Bagga A. Idiopathic collapsing glomerulopathy in children. Clin Exp Nephrol. 2008;12(5):348–53.CrossRefGoogle Scholar
  6. 6.
    Kari JA, Jalalah S, Singh A, Mokhtar G. Collapsing focal segmental glomerulosclerosis in a young child. Nephron Clin Pract. 2012;121(1–2):c83–90.CrossRefGoogle Scholar
  7. 7.
    Albaqumi M, Barisoni L. Current views on collapsing glomerulopathy. J Am Soc Nephrol. 2008;19(7):1276–81.CrossRefGoogle Scholar
  8. 8.
    Barisoni L, Diomedi-Camassei F, Santorelli FM, Caridi G, Thomas DB, Emma F, et al. Collapsing glomerulopathy associated with inherited mitochondrial injury. Kidney Int. 2008;74(2):237–43.CrossRefGoogle Scholar

Copyright information

© Japanese Society of Nephrology 2019

Authors and Affiliations

  • Gurinder Kumar
    • 1
    Email author
  • Rajendran Nair
    • 1
  • Bassem Soliman Hendawy
    • 2
  • Omar Ahmed AlShkeili
    • 1
  • Ahmed Abdulla Alabdouli
    • 1
  • Adnan Mohamed Al Ali
    • 1
  • Amal Mohamed Jasem AlTenaiji
    • 1
  1. 1.Department of PaediatricsSheikh Khalifa Medical CityAbu DhabiUnited Arab Emirates
  2. 2.Department of PathologySheikh Khalifa Medical CityAbu DhabiUnited Arab Emirates

Personalised recommendations