Surfactant protein c deficiency treatment

Ideally a fetuss lungs start making the surfactant between the 26 th and the 34 th week. Successful treatment of neonatal respiratory failure caused by a novel surfactant protein C pCys121Gly mutation with hydroxychloroquine.

In 2007 the US Food and Drug Administration approved the use of a protein C concentrate called Ceprotin for the treatment of individuals with severe protein C deficiency experiencing purpura fulminans or venous thrombosis.

Surfactant protein c deficiency treatment. The exact physiopathology of this disease is not known and there is no specific treatment for it. 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. There are several types of surfactant dysfunction which are identified by the genetic cause of the condition.

One type called SP-B deficiency causes respiratory distress syndrome in newborns. Other types known as SP-C dysfunction and ABCA3 deficiency have. 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. Currently there is no specific treatment for any of the surfactant protein deficiencies. For affected newborns surfactant replacement therapy may improve respiratory status transiently but is ineffective in treating the underlying deficiency.

Lung transplantation may be considered. SFTPC surfactant protein C mutations resulting in SP-C deficiency causing ongoing respiratory failure in the neonatal period represent a rare entity. We report a full-term female infant who developed respiratory distress and respiratory failure shortly after birth.

From the first day of life the infant was mechanically ventilated. We wish to report initial success in treating a boy with surfactant protein C deficiency. The patient was first admitted to the hospital at five months of age with severe respiratory.

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. How can you treat protein C deficiency.

Blood thinner medications also known as anticoagulants can treat protein C deficiency. These medications cut your. Of surfactant protein C deficiency was suspected.

Lung biopsy showed the presence of alveolar cholesterol granulomas and lym-phocyte and macrophage infiltrates. Genetic analysis showed a de novo mutation in the pulmonary surfactant-associated protein C SFTPC gene amino acid substitution I73T. Treatment was initiated with oral.

In 2007 the US Food and Drug Administration approved the use of a protein C concentrate called Ceprotin for the treatment of individuals with severe protein C deficiency experiencing purpura fulminans or venous thrombosis. Infants with severe protein C deficiency who develop purpura fulminans require immediate treatment with Ceprotin. Corticosteroids are the mainstay of treatment of infants with SP-C deficiency although many centers also administer azithromycin andor hydroxychloroquine Thouvenin etal 2010.

In common with SP-B deficiency the lung histopathologic features of patients with SP-C deficiency. Is treatment with hydroxychloroquine effective in surfactant protein C deficiency. Rabach I Poli F Zennaro F Germani C Ventura A Barbi E Arch Bronconeumol 2013 May495213-5.

Epub 2012 Nov 6 doi. Request PDF Is Treatment With Hydroxychloroquine Effective in Surfactant Protein C Deficiency. We present the case of two twin brothers with surfactant protein C deficiency who were treated.

The primary cause for surfactant deficiency syndrome is the inadequacy of the fluid surfactant which coats the internal walls of the lungs. Ideally a fetuss lungs start making the surfactant between the 26 th and the 34 th week. A reason why the disorder is more common in premature infants.

Rosen DM Waltz DA. Hydroxychloroquine and surfactant protein C deficiency. N Engl J Med 2005.

Hepping N Griese M Lohse P et al. Successful treatment of neonatal respiratory failure caused by a novel surfactant protein C pCys121Gly mutation with hydroxychloroquine. Mutations in the gene encoding surfactant protein C SP-C cause interstitial lung disease ILD and glucocorticosteroid GC treatment is the most recognized therapy in children.

In adult patients with protein C deficiency who have experienced WISN dabigatran rivaroxaban apixaban or edoxaban have been used successfully for subsequent anticoagulation.