Bilateral Cystic Bronchiectasis as Novel Phenotype of Niemann-Pick Disease Type B Successfully Treated With Double Lung Transplantation Claudio Tirelli, MD; Eloisa Arbustini, MD, PhD; and Federica Meloni, MD, PhD Niemann-Pick Disease type B (NPDB) is a rare autosomal recessive disease belonging to the family of lysosomal storage disorders. NPDB is caused by mutations of sphingomyelin phosphodiesterase 1 gene (SMPD1) and is characterized by hepatosplenomegaly, interstitial lung disease, recurrent pul- monary infections, and neurologic disorders. Bronchiectasis are atypical. Until now, only three cases of lung transplantation for severe respiratory impairment have been reported. We describe a case of NPDB that was diagnosed after lung transplantation for cystic bronchiectasis. In 2016, a 31-year-old woman who was experiencing hypoxemic respiratory failure and recurrent pulmonary infections due to cystic bronchiectasis received a double-lung-transplantation. Histopathologic study on removed lungs revealed clusters of CD68 foamy lipid-laden macrophages with concentric and palisade arrangement, compatible with the diagnosis of NPDB, which was confirmed after SMPD1 genetic sequencing. Twenty-three months after transplantation, allograft function is stable (FEV 1 was 100% of best-FEV 1 ). The singularity of this case lies in the presence of bronchiectasis, which is an unprecedently described phenotype of NPDB. This finding was accompanied by the detection of a novel SMPD1 mutation (p.Ala46¼) of uncertain meaning. CHEST 2021; 159(5):e293-e297 KEY WORDS: cystic bronchiectasis; lung transplantation; Niemann-Pick Disease type B Types A and B Niemann-Pick diseases (NPD) are rare (0.4-0.6 in 100.000 newborn infants 1 ) autosomal recessive storage disorders. The cause is the deficient activity of the lysosomal acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene (MIM#607608) mapping at 11p15.1 to p15.4. The severity of clinical involvement largely depends on the specific SMPD1 mutation and the consequent effect on the residual acid sphingomyelinase activity. Although the two variants (Niemann-Pick disease A and Niemann-Pick disease B) are caused by defects of the same gene, their phenotypes are different. ABBREVIATIONS: NPD = Niemann-Pick diseases; NPDB = Niemann- Pick disease B; SMPD1 = sphingomyelin phosphodiesterase 1 AFFILIATIONS: From the Department of Internal Medicine and Therapeutics, Division of Respiratory Diseases, University of Pavia and IRCCS Policlinico San Matteo Foundation (C. Tirelli and F. Meloni), Pavia, Italy; and Centre for Inherited Cardiovascular Diseases, Uni- versity of Pavia and IRCCS Policlinico San Matteo Foundation (E. Arbustini), Pavia, Italy. Presented at the XX Congresso Nazionale di Pneumologia SIP/IRS, November 13-16, 2019, Florence, Italy, and at the ERS International Congress 2020, September 7-9, 2020. FUNDING/SUPPORT: The study was supported by funds “Ricerca Corrente” from Italian Ministry of Health granted to IRCCS Policlinico San Matteo, Pavia, Italy. CORRESPONDENCE TO: Claudio Tirelli, MD; e-mail: claudio.tirelli01@ universitadipavia.it Copyright Ó 2021 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved. DOI: https://doi.org/10.1016/j.chest.2020.11.074 [ Novel Reports ] chestjournal.org e293
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