Collapsing Focal Segmental Glomerulosclerosis in a Young Child

Kari, Jameela A.; Jalalah, Sawsan M.; Singh, Ajay K.; Mokhtar, Ghadeer

doi:10.1159/000343568

Cited by 2 publications

(2 citation statements)

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“…Two of the six patients progressed to end-stage renal disease within a median followup period of 27 months [5]. Kari and colleagues reported an 18-month-old child with collapsing glomerulopathy who presented with steroid-resistant nephrotic syndrome and progressed early to end-stage renal failure [6].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2019

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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.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2019

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“…IgA nephropathy is a known underlying cause of SRNS as well as MPGN. 4 , 5 We have reported mutations of only NPHS1, NPHS2, and WT1, and, therefore, some children with negative mutations initially were found to have other mutations such as TRPC6 6 or SMARCAL1. 7 , 8 Furthermore, we believe that we have other undiscovered mutations in our area as the underlying cause of childhood SRNS.…”

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confidence: 99%

Reply to RE: Steroid-resistant nephrotic syndrome: impact of genetic testing

Kari

2014

Annals of Saudi Medicine

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Collapsing Focal Segmental Glomerulosclerosis in a Young Child

Cited by 2 publications

References 63 publications

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

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

Reply to RE: Steroid-resistant nephrotic syndrome: impact of genetic testing

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