Clinical features of three cases with pulmonary alveolar proteinosis secondary to myelodysplastic syndrome developed during the course of Behçet's disease

Handa, Tomohiro; Nakatsue, Takeshi; Baba, Motoo; Takada, Toshinori; Nakata, Koh; Ishii, Haruyuki

doi:10.1016/j.resinv.2013.05.005

Cited by 13 publications

(13 citation statements)

References 15 publications

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“…PAP secondary to MDS was found to casually co-appear with Behçet's disease [4] , however our patient did not meet the clinical criteria for Behçet's. Her symptoms are highly suggestive of a single, loss of function GATA2 mutation which causes, via haplo-insufficiency, reduced production of a zinc-finger haematopoietic transcription factor [3] .…”

Section: Discussioncontrasting

confidence: 57%

“…Recognizing those patients with a GATA2 mutation among PAP patients will potentially enable better treatment options to be chosen and possible complications to be predicted.The simultaneous presentation of secondary PAP, MDS and recurrent miscarriages, along with low monocyte and lymphocyte counts, led us on a quest for a single aetiology. PAP secondary to MDS was found to casually co-appear with Behçet's disease [4] , however our patient did not meet the clinical criteria for Behçet's. Her symptoms are highly suggestive of a single, loss of function GATA2 mutation which causes, via haplo-insufficiency, reduced production of a zinc-finger haematopoietic transcription factor [3] .…”

Section: Discussioncontrasting

confidence: 57%

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Is There More to This Case than Mere Pulmonary Alveolar Proteinosis? A Clinical Case Presentation

Frenkel-Rutenberg

Dagan

Lotan

et al. 2015

European Journal of Case Reports in Internal Medicine

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Section: Discussioncontrasting

confidence: 57%

Section: Discussioncontrasting

confidence: 57%

Is There More to This Case than Mere Pulmonary Alveolar Proteinosis? A Clinical Case Presentation

Frenkel-Rutenberg

Dagan

Lotan

et al. 2015

European Journal of Case Reports in Internal Medicine

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“…Interestingly, the frequency of intestinal BD is significantly higher in BD patients with BD with than without bone marrow failure (61.5% vs. 13.6%) [ 7 ]. Handa et al [ 8 ] reported the data of 64 patients with BD and MDS, and they observed high frequencies of intestinal lesions (66%) and trisomy 8 (80%) but a low frequency of ocular lesions (13%). In particular, the data demonstrated that intestinal lesions were characteristic findings in BD associated with trisomy 8 and bone marrow failure, especially in MDS.…”

Section: Discussionmentioning

confidence: 99%

Long-term outcome after surgery in a patient with intestinal Behçet’s disease complicated by myelodysplastic syndrome and trisomy 8

et al. 2020

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Behçet’s disease (BD) is a multisystem inflammatory disease of unknown origin. Rarely, BD occurs together with myelodysplastic syndrome (MDS). Interestingly, it is speculated that these are not simple coexistence but that the etiology of intestinal BD is at least partly derived from MDS itself. Furthermore, there is a relationship between MDS in patients with intestinal BD and trisomy 8. Immunosuppressive agents alone are insufficient to control MDS-associated BD, and many of these patients die of infection or hemorrhage. Surgery is considered for intestinal BD patients who are unresponsive to medical treatment or those with bowel complications such as perforation or persistent bleeding. We report a case of intestinal BD associated with MDS and trisomy 8. The patient was unresponsive to oral steroids and immunosuppressive treatment; the patient improved by surgical repair of a bowel perforation. Five years after the surgery, the patient is free of recurrence and not on medication. Our experience suggests that surgery may provide an effective therapeutic option for the treatment of MDS-related BD.

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“… 7 SPAP is associated with underlying malignancies or blood diseases, such as myelodysplastic syndrome (MIM: 614286 ). 8 GPAP is caused by mutations in several genes. 9 , 10 SP-B, encoded by one of the genes associated with GPAP, SFTPB (MIM: 178640 ), is required for the maturation of SP-C. SP-B deficiency (MIM: 265120 ) is an autosomal-recessive disease characterized by respiratory distress syndrome (RDS) (MIM: 267450 ) at birth, which then develops into infantile type PAP.…”

Section: Main Textmentioning

confidence: 99%

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Cho

Yamada

Agematsu

et al. 2018

The American Journal of Human Genetics

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Pulmonary alveolar proteinosis (PAP) is characterized by accumulation of a surfactant-like substance in alveolar spaces and hypoxemic respiratory failure. Genetic PAP (GPAP) is caused by mutations in genes encoding surfactant proteins or genes encoding a surfactant phospholipid transporter in alveolar type II epithelial cells. GPAP is also caused by mutations in genes whose products are implicated in surfactant catabolism in alveolar macrophages (AMs). We performed whole-exome sequence analysis in a family affected by infantile-onset PAP with hypogammaglobulinemia without causative mutations in genes associated with PAP: SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB, and GATA2. We identified a heterozygous missense variation in OAS1, encoding 2,'5'-oligoadenylate synthetase 1 (OAS1) in three affected siblings, but not in unaffected family members. Deep sequence analysis with next-generation sequencing indicated 3.81% mosaicism of this variant in DNA from their mother's peripheral blood leukocytes, suggesting that PAP observed in this family could be inherited as an autosomal-dominant trait from the mother. We identified two additional de novo heterozygous missense variations of OAS1 in two unrelated simplex individuals also manifesting infantile-onset PAP with hypogammaglobulinemia. PAP in the two simplex individuals resolved after hematopoietic stem cell transplantation, indicating that OAS1 dysfunction is associated with impaired surfactant catabolism due to the defects in AMs.

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Clinical features of three cases with pulmonary alveolar proteinosis secondary to myelodysplastic syndrome developed during the course of Behçet's disease

Cited by 13 publications

References 15 publications

Is There More to This Case than Mere Pulmonary Alveolar Proteinosis? A Clinical Case Presentation

Is There More to This Case than Mere Pulmonary Alveolar Proteinosis? A Clinical Case Presentation

Long-term outcome after surgery in a patient with intestinal Behçet’s disease complicated by myelodysplastic syndrome and trisomy 8

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

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