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HERDIN Record #: NCR-PHC-17092814101386 Submitted: 28 September 2017 Modified: 28 September 2017

Familial Interstitial Lung Disease in a family with Familial Juvenile Idiopathic Arthritis: "Close Family Ties".

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Background: Interstitial lung disease (ILD) includes a large, heterogeneous group of mostly rare pulmonary conditions that cause derangements of the alveolar walls and loss of functional alveolar capillaries. It is a complex disease. Familial ILD is a rare type of hereditary disease and a thorough evaluation of the root cause is needed. It becomes explicitly rare and multifaceted when the main cause is another familial type of disease, familial juvenile idiopathic arthritis. Several factors should be considered, since the disease itself is exceptionally atypical in nature and are rarely encountered in our practice. Once a diagnosis was done, proper treatment should be given to decrease the mortality rate among children.


Case: We present a case of an 8 year old girl who presented with difficulty of breathing, with swelling of fingers, ankles and knees and had presented with respiratory distress when she was 2 years old. Diagnosed initially as miliary tuberculosis. Workups done such as Chest CT scan and Open lung biopsy. RF factor was extremely high, and antidsDNA was equivocal. She had relatives died with unknown cause of death, her eldest sister died of respiratory distress when she was 1 year and 3 months old, of unknown diagnosis. Her 3rd sibling was diagnosed with SLE and JIA at 3 years old and presented with respiratory distress a year after, diagnosed as ILD by chest CT scan. A familial ILD, among sisters, with one unaffected younger sister. Presently maintained on steroids, and sildenafil for the pulmonary hypertension.


Conclusion: The diagnosis of interstitial lung disease is challenging. In this report we describe a rare type of familial ILD in Filipino children. Searching for the known etiology of such disease, requires a thorough history and a complete physical examination. Presently underreported and misdiagnosed cases are usually seen in our clinical settings, thus vigilant moves should be done in order to decrease morbidity and mortality among children.


 

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Philippine Heart Center Medical Library CR.009.11 Fulltext Print Format