An Unusual Case of Interstitial Lung Disease as the Primary Presentation of Mixed Connective Tissue Disease in a Child with Sickle Cell Disease
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An Unusual Case of Interstitial Lung Disease as the Primary Presentation of Mixed Connective Tissue Disease in a Child with Sickle Cell Disease. / Diaz-Gil, Daniel; Popatia, Rizwana.
In: PEDIAT ALLER IMM PUL, Vol. 31, No. 3, 09.2018, p. 191-193.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - An Unusual Case of Interstitial Lung Disease as the Primary Presentation of Mixed Connective Tissue Disease in a Child with Sickle Cell Disease
AU - Diaz-Gil, Daniel
AU - Popatia, Rizwana
N1 - Publisher Copyright: © Copyright 2018, Mary Ann Liebert, Inc., publishers 2018.
PY - 2018/9
Y1 - 2018/9
N2 - Mixed connective tissue disease (MCTD) is an autoimmune disease associated with pulmonary manifestations. We report a case of a 15-year-old asymptomatic African American boy with sickle cell disease (SCD), diagnosed with MCTD-related interstitial lung disease as the primary diagnosis after a work-up for worsening pulmonary function tests (PFTs). To our knowledge, this is the first case of MCTD with primary pulmonary manifestations in a pediatric patient with sickle cell anemia with no respiratory symptoms, diagnosed with PFTs, serology, and biopsy. This case emphasizes the need of early pulmonary specialist involvement in SCD and autoimmune disease patients, and that periodic PFTs remain a very useful tool for early diagnosis and disease progression assessment.
AB - Mixed connective tissue disease (MCTD) is an autoimmune disease associated with pulmonary manifestations. We report a case of a 15-year-old asymptomatic African American boy with sickle cell disease (SCD), diagnosed with MCTD-related interstitial lung disease as the primary diagnosis after a work-up for worsening pulmonary function tests (PFTs). To our knowledge, this is the first case of MCTD with primary pulmonary manifestations in a pediatric patient with sickle cell anemia with no respiratory symptoms, diagnosed with PFTs, serology, and biopsy. This case emphasizes the need of early pulmonary specialist involvement in SCD and autoimmune disease patients, and that periodic PFTs remain a very useful tool for early diagnosis and disease progression assessment.
KW - autoimmune disease
KW - child
KW - interstitial lung disease
KW - mixed connective tissue disease
KW - pulmonary function testing
KW - sickle cell disease
UR - http://www.scopus.com/inward/record.url?scp=85053721229&partnerID=8YFLogxK
U2 - 10.1089/ped.2017.0851
DO - 10.1089/ped.2017.0851
M3 - SCORING: Journal article
AN - SCOPUS:85053721229
VL - 31
SP - 191
EP - 193
JO - PEDIAT ALLER IMM PUL
JF - PEDIAT ALLER IMM PUL
SN - 2151-321X
IS - 3
ER -