Hydroxychloroquine surfactant protein c deficiency

Discussion in 'Hydroxychloroquine' started by Daisy Blue, 27-Feb-2020.

  1. SashaK New Member

    Hydroxychloroquine surfactant protein c deficiency


    No clinical trials of medications for ch ILD have been conducted to date. Corticosteroids have been the mainstay of therapy in most children and adults with interstitial lung disease (ILD), despite little conclusive evidence of their efficacy.

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    In an infant and mother with respiratory insufficiency due to surfactant metabolism dysfunction and surfactant protein C deficiency SMDP2; 610913, Nogee et al. 2001 identified a heterozygous 460+1G-A mutation genomic DNA base 1728 in the splice donor site of intron 4 of the SFTPC gene. The mutation resulted in the skipping of exon 4 and the deletion of 37 amino acids in the C-terminal domain of the precursor protein, which was predicted to disrupt intracellular transport. Subsequently, surfactant protein gene analysis revealed mutations in the ABCA3 gene. This case of ABCA3 deficient ILD describes a stable clinical course over 10 years and highlights the potential benefit of hydroxychloroquine for this condition. Pediatr Pulmonol. 2014; 9–301. Mar 19, 2014 Childhood interstitial lung disease due to surfactant protein C deficiency frequent use and costs of hospital services for a single case in Australia Neil J Hime 1, 2 Dominic Fitzgerald 2, 3

    These agents elicit anti-inflammatory properties and cause profound and varied metabolic effects. The medications commonly used for pharmacotherapy in ch ILD and common adverse effects are reviewed below.

    Hydroxychloroquine surfactant protein c deficiency

    Hydroxychloroquine and surfactant protein C deficiency., Ten-year follow up of hydroxychloroquine treatment for ABCA3.

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  6. Lung transplantation was successful in children with SFTPC gene mutation as noted in one case report. 4 Few cases of surfactant protein C deficiency treated with hydroxychloroquine have been.

    • Neonatal respiratory failure associated with mutation in the surfactant..
    • Childhood interstitial lung disease due to surfactant protein..
    • Successful treatment of neonatal respiratory failure..

    Surfactant protein C deficiency is characterised by deficiency of the protein and its intracellular accumulation, with subsequent local inflammation and interstitial lung disease. There is no specific treatment, but hydroxychloroquine has been reported to be effective. There is merely news from a few previous descriptions in the literature about the use of hydroxychloroquine for surfactant protein C deficiency with satisfactory results. Two years after the treatment was withdrawn, the twins were evaluated once again they presented no new infections, growth and general state were normal and chest CT showed a notable additional reduction in the interstitial pneumopathy. The ABCA3 protein transports phospholipids into lamellar bodies where they form surfactant. The ABCA3 protein also appears to be involved in the formation of lamellar bodies. ABCA3 gene mutations, which cause a type of surfactant dysfunction sometimes referred to as ABCA3 deficiency, lead to reduction or absence of the protein's function. Without ABCA3 protein function, the transport of surfactant phospholipids is decreased.

     
  7. Bellman New Member

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  8. SeaHorse Moderator

    Immune & Autoimmune - Lupus Plaquenil - Better Than Prednisone? Plaquenil - Better Than Prednisone? The conclusion is that I have an autoimmune disease that has affected my kidneys. Throughout the 12 1/2 years, I have been prescribed 10mg of predinsone a day during my `worst' time to 1 mg every other day when I was in `serious' remission.

    Hydroxychloroquine Plaquenil