Double-Lung Transplantation in a Patient with Pulmonary Type B Niemann-Pick Disease: A Valid Treatment Option

Cuesta, Víctor Manuel Mora; Osorio, Joy Selene Chávez; Iturbe-Fernández, David; Tello, Sandra; Guzmán, Yedra Gómez; Sánchez, Laura Moreno; Gómez-Román, Javier; Cifrián, José Manuel

doi:10.1155/2022/5428381

Cited by 4 publications

(4 citation statements)

References 9 publications

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“…There are limited data on other possible therapeutic options, such as stem cell transplantation and liver and lung transplantation. In the current era of genetics, gene therapy may well be an option in the future [ 20 , 21 , 22 , 23 , 24 , 25 ]. Preventive measures, including antenatal diagnosis and termination of pregnancy with an affected fetus, are viable options for families with a history of NPC2.…”

Section: Discussionmentioning

confidence: 99%

A Niemann–Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report

Al-Shamrani

Mahfoudh³

et al. 2022

Children

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Niemann–Pick disease type C (NPC) is an autosomal recessive lipid storage disorder. There are two types, NPC1, which is the predominant form (95%), and the rare NPC2, which represents less than 5% of the reported cases. Niemann–Pick disease type C2 usually presents with respiratory symptoms, cholestasis, neurological impairment, and hepatosplenomegaly. Case report: Here, we report a 3-year-old boy who presented to our hospital with exacerbation of chronic lung disease requiring invasive ventilatory support. He was previously diagnosed with interstitial lung disease. His parents used to instill olive oil in his nose (a few drops in each nostril daily for several months) to treat frequent nasal bleeding. A detailed history revealed prolonged neonatal jaundice for four months, with hepatosplenomegaly. In his second year, generalized hypotonia and delayed psychomotor development were observed. Upon presentation to our institute, chest CT showed evidence of intraparenchymal fat; therefore, lipoid pneumonia and lipid storage disease were suspected. The bronchoalveolar lavage results suggested pulmonary alveolar proteinosis (PAP). Whole-exome sequencing (WES) revealed a class one homozygous pathogenic variant in the NPC2 gene. Our patient faced a range of difficulties, including prolonged mechanical ventilation and diagnostic and therapeutic challenges. Conclusion: Niemann–Pick disease type C2 is a progressive and lethal condition that requires a high index of suspicion to pinpoint the diagnosis. Gene study remains the method of choice to confirm the diagnosis. There are limited choices of therapeutic interventions; therefore, genetic counseling and the prevention of recurrence should be the ultimate goal for affected families.

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Section: Discussionmentioning

confidence: 99%

A Niemann–Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report

Al-Shamrani

Mahfoudh³

et al. 2022

Children

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“…Tirelli et al [2] described a 34-year-old woman, the youngest patient to be transplanted for NPD type B with lung involvement, still living 3 years after the lung transplant. Finally, Mora et al [36] reported a double-lung transplantation in a 57-year-old man with diffuse interstitial lung disease. The patient did not show recurrence of the disease nor relevant complications 23 months post-transplantation.…”

Section: Lung Transplantationmentioning

confidence: 99%

The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann–Pick Disease: A Comprehensive Review

Tirelli,

Rondinone,

Italia

et al. 2024

Biomolecules

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Niemann–Pick Disease (NPD) is a rare autosomal recessive disease belonging to lysosomal storage disorders. Three types of NPD have been described: NPD type A, B, and C. NPD type A and B are caused by mutations in the gene SMPD1 coding for sphingomyelin phosphodiesterase 1, with a consequent lack of acid sphingomyelinase activity. These diseases have been thus classified as acid sphingomyelinase deficiencies (ASMDs). NPD type C is a neurologic disorder due to mutations in the genes NPC1 or NPC2, causing a defect of cholesterol trafficking and esterification. Although all three types of NPD can manifest with pulmonary involvement, lung disease occurs more frequently in NPD type B, typically with interstitial lung disease, recurrent pulmonary infections, and respiratory failure. In this sense, bronchoscopy with broncho-alveolar lavage or biopsy together with high-resolution computed tomography are fundamental diagnostic tools. Although several efforts have been made to find an effective therapy for NPD, to date, only limited therapeutic options are available. Enzyme replacement therapy with Olipudase α is the first and only approved disease-modifying therapy for patients with ASMD. A lung transplant and hematopoietic stem cell transplantation are also described for ASMD in the literature. The only approved disease-modifying therapy in NPD type C is miglustat, a substrate-reduction treatment. The aim of this review was to delineate a state of the art on the genetic basis and lung involvement in NPD, focusing on clinical manifestations, radiologic and histopathologic characteristics of the disease, and available therapeutic options, with a gaze on future therapeutic strategies.

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“…Therapeutic bronchopulmonary lavage for some patients with ASMD type-B has been associated with temporary clinical improvement, but with variable results [ 117 , 134 , 135 ]. Four cases of lung transplantation in ASMD type-B with variable results have been reported [ 136 – 139 ].…”

Section: Managementmentioning

confidence: 99%

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

Geberhiwot

Wasserstein

Wanninayake

et al. 2023

Orphanet J Rare Dis

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Background Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There are no published national or international consensus guidelines for the diagnosis and management of patients with ASMD. For these reasons, we have developed clinical guidelines that defines standard of care for ASMD patients. Methods The information contained in these guidelines was obtained through a systematic literature review and the experiences of the authors in their care of patients with ASMD. We adopted the Appraisal of Guidelines for Research and Evaluation (AGREE II) system as method of choice for the guideline development process. Results The clinical spectrum of ASMD, although a continuum, varies substantially with subtypes ranging from a fatal infantile neurovisceral disorder to an adult-onset chronic visceral disease. We produced 39 conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. In addition, these guidelines have identified knowledge gaps that must be filled by future research. Conclusion These guidelines can inform care providers, care funders, patients and their carers about best clinical practice and leads to a step change in the quality of care for patients with ASMD with or without enzyme replacement therapy (ERT).

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Double-Lung Transplantation in a Patient with Pulmonary Type B Niemann-Pick Disease: A Valid Treatment Option

Cited by 4 publications

References 9 publications

A Niemann–Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report

A Niemann–Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report

The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann–Pick Disease: A Comprehensive Review

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

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