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2000
Volume 21, Issue 3
  • ISSN: 1573-398X
  • E-ISSN: 1875-6387

Abstract

Background

Nonspecific symptoms and variable clinical course are the hurdles in diagnosing pulmonary alveolar proteinosis (PAP), a rare lung disease. We report a pediatric case of hereditary PAP caused by mutations in the gene encoding granulocyte Macrophage colony-stimulating factor (GMCSF) receptor.

Case Presentation

A 3 years 10-month-old female child, born to 3rd-degree consanguineous parents presented with fever, intermittent cough, and breathing difficulty ten days before hospitalization. Chest X-ray revealed bilateral diffuse alveolar infiltrates; Computed tomography (CT) showed diffuse interstitial thickening along with a crazy pavement pattern. Bronchoscopy and broncho-alveolar lavage (BAL) was performed. PAP was confirmed with BAL and genetic testing. Serum GM-CSF autoantibody test was normal but serum GM-CSF concentration was high (115.7 pg/mL). There was a continuous heterozygous deletion encompassing exon region 13 of the SLC34A2 gene, suggestive of pulmonary alveolar microlithiasis.

The patient received steroids (x2 weeks), inhalers (bronchodilators & steroids), and intermittent home oxygen therapy (x2 weeks) with a good response.

Discussion

Due to nonspecific symptomatology, and variation in disease severity, diagnosis of PAP is delayed or missed. Crazy paving on CT, milky fluid on BAL with similar histological features of foamy macrophages, and PAS-positive amorphous material within the alveolus are diagnostic clues.

Asymptomatic patients or those with mild symptoms are managed with supportive care, monitoring, and chest imaging; moderate to severe symptoms require whole lung lavage (WLL); GM-CSF Replacement therapy, an alternative to WLL Immunomodulation therapy is also considered.

Conclusion

PAP can be managed conservatively with supportive therapy with good clinical outcomes and not all patients require WLL. However, patient selection is crucial.

© 2025 Bentham Science Publishers
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2025-09-08

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References

  1. McCarthyC. AvetisyanR. CareyB.C. ChalkC. TrapnellB.C. Prevalence and healthcare burden of pulmonary alveolar proteinosis.Orphanet J. Rare Dis.201813112910.1186/s13023‑018‑0846‑y30064481
     [Google Scholar]
  2. BorieR. DanelC. DebrayM.P. TailleC. DombretM.C. AubierM. EpaudR. CrestaniB. Pulmonary alveolar proteinosis.Eur. Respir. Rev.2011201209810710.1183/09059180.0000131121632797
     [Google Scholar]
  3. TrapnellB.C. WhitsettJ.A. NakataK. Pulmonary alveolar proteinosis.N. Engl. J. Med.2003349262527253910.1056/NEJMra02322614695413
     [Google Scholar]
  4. KambojA. LauseM. DuggiralaV. Severe pulmonary alveolar proteinosis in a young adult.Am. J. Med.20181315e199e20010.1016/j.amjmed.2017.12.01929307537
     [Google Scholar]
  5. ZhangD. TianX. FengR. GuoX. WangP. SituY. XiaoY. XuK.F. Secondary pulmonary alveolar proteinosis: A single-center retrospective study (a case series and literature review).BMC Pulm. Med.20181811510.1186/s12890‑018‑0590‑z29368649
     [Google Scholar]
  6. HammamiS. HarrathiK. LajmiK. HaddedS. Ben MeriemC. GuédicheM.N. Congenital pulmonary alveolar proteinosis.Case Rep. Pediatr.201320131210.1155/2013/76421623710403
     [Google Scholar]
  7. EnaudL. HadchouelA. CoulombA. BertelootL. LacailleF. Boccon-GibodL. BoulayV. DarcelF. GrieseM. LinardM. LouhaM. RenouilM. RivièreJ.P. ToupanceB. VerkarreV. DelacourtC. de BlicJ. Pulmonary alveolar proteinosis in children on La Réunion Island: A new inherited disorder?Orphanet J. Rare Dis.2014918510.1186/1750‑1172‑9‑8524927752
     [Google Scholar]
  8. SalmaE-H. NazikA. LatifaC. SihamE-H. Pulmonary alveolar proteinosis in an 11 year old child.Int. J. Clin. Med. Images2022981810.4172/2376‑0249.1000818
     [Google Scholar]
  9. JinS.Y. YunH.R. ChoiY.J. ParkJ.D. KimJ.T. KangC.H. ParkY.S. ChoiY.H. KimW.S. SuhD.I. A pediatric case of relapsed pulmonary alveolar proteinosis despite successful whole lung lavage.Korean J. Pediatr.201760723223610.3345/kjp.2017.60.7.23228861115
     [Google Scholar]
  10. KhalilO.R. MatarO.S. Abed AlhaleemM.H. AttiliA.A. IbrahimS.M. A case of pulmonary alveolar proteinosis in a 15-year-old female patient.Cureus2023155e3925410.7759/cureus.3925437342730
     [Google Scholar]
  11. WhiteD.A. KlugmanS.R. WeilR. ZigiriadisE. GreenR.J. Pulmonary alveolar proteinosis in a child from an informal settlement: 12 litres of fluid drained from the lungs and successful use of ECMO.SAJCH20137415515710.7196/sajch.599
     [Google Scholar]
  12. TabatabaeiS.A. KarimiA. TabatabaeiS.R. RadpayB. JadaliF. ShivaF. JahromyM.H. Pulmonary alveolar proteinosis in children: A case series.J. Res. Med. Sci.201015212012421526069
     [Google Scholar]
  13. GandhiV. KadamS. Pulmonary alveolar proteinosis: Case report of rare diffuse lung disorder in pediatric age group.Indian J. Resp. Care202211216917210.4103/ijrc.ijrc_130_21
     [Google Scholar]
  14. IyengarJ.N.R. R ReddyB.K.K. Pulmonary alveolar proteinosis in children: An unusual presentation with significant clinical impact.Indian J. Pathol. Microbiol.201861341842010.4103/IJPM.IJPM_17_1730004070
     [Google Scholar]
  15. KhoslaI. AryaM. YadavN. PandeyA. PrabhudesaiP. KulkarniS. Bilateral whole lung lavage in hereditary pulmonary alveolar proteinosis in a 4-year-old Child Using Extracorporeal Membrane Oxygenation.Indian J. Crit. Care Med.20212591069107210.5005/jp‑journals‑10071‑2396834963730
     [Google Scholar]
  16. BaroA. ShahI. ChandaneP. KhoslaI. Pulmonary alveolar proteinosis in a 10-year-old girl masquerading as tuberculosis.Oxf. Med. Case Rep.20152015630030210.1093/omcr/omv03926069841
     [Google Scholar]
  17. HolbertJ.M. CostelloP. LiW. HoffmanR.M. RogersR.M. CT features of pulmonary alveolar proteinosis.AJR Am. J. Roentgenol.200117651287129410.2214/ajr.176.5.176128711312196
     [Google Scholar]
  18. Tanaka-KubotaM. ShinozakiK. MiyamotoS. YanagimachiM. OkanoT. MitsuikiN. UekiM. YamadaM. ImaiK. TakagiM. AgematsuK. KaneganeH. MorioT. Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease.Int. J. Hematol.2018107561061410.1007/s12185‑017‑2375‑129185156
     [Google Scholar]
  19. StanleyE. LieschkeG.J. GrailD. MetcalfD. HodgsonG. GallJ.A. MaherD.W. CebonJ. SinickasV. DunnA.R. Granulocyte/macrophage colony-stimulating factor-deficient mice show no major perturbation of hematopoiesis but develop a characteristic pulmonary pathology.Proc. Natl. Acad. Sci. USA199491125592559610.1073/pnas.91.12.55928202532
     [Google Scholar]
  20. UchidaK. NakataK. CareyB. ChalkC. SuzukiT. SakagamiT. KochD.E. StevensC. InoueY. YamadaY. TrapnellB.C. Standardized serum GM-CSF autoantibody testing for the routine clinical diagnosis of autoimmune pulmonary alveolar proteinosis.J. Immunol. Methods20144021-2577010.1016/j.jim.2013.11.01124275678
     [Google Scholar]
  21. McElvaneyO.J. HoranD. FranciosiA.N. GunaratnamC. McElvaneyN.G. Pulmonary alveolar proteinosis.QJM2018111318518610.1093/qjmed/hcx23529240908
     [Google Scholar]
  22. ReiterK. SchoenC. GrieseM. NicolaiT. Whole-lung lavage in infants and children with pulmonary alveolar proteinosis.Paediatr. Anaesth.201020121118112310.1111/j.1460‑9592.2010.03442.x21199121
     [Google Scholar]
  23. CampoI. LuisettiM. GrieseM. TrapnellB.C. BonellaF. GruttersJ. NakataK. Van MoorselC.H.M. CostabelU. CottinV. IchiwataT. InoueY. BraschiA. BonizzoniG. IottiG.A. TinelliC. RodiG. Whole lung lavage therapy for pulmonary alveolar proteinosis: A global survey of current practices and procedures.Orphanet J. Rare Dis.201611111510.1186/s13023‑016‑0497‑927577926
     [Google Scholar]
  24. CampoI. MarianiF. RodiG. ParacchiniE. TsanaE. PiloniD. NobiliI. KadijaZ. CorsicoA. CerveriI. ChalkC. TrapnellB.C. BraschiA. TinelliC. LuisettiM. Assessment and management of pulmonary alveolar proteinosis in a reference center.Orphanet J. Rare Dis.2013814010.1186/1750‑1172‑8‑4023497546
     [Google Scholar]
  25. MatsuuraH. YamajiY. Pulmonary alveolar proteinosis: Crazing- paving appearance.Am. J. Med.20181314e153e15410.1016/j.amjmed.2017.11.01329191486
     [Google Scholar]
  26. PatirogluT. AkyıldızB. PatirogluT.E. GulmezI.Y. Recurrent pulmonary alveolar proteinosis secondary to agammaglobulinemia.Pediatr. Pulmonol.200843771071310.1002/ppul.2081818496859
     [Google Scholar]
/content/journals/crmr/10.2174/011573398X303101241016034335
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Genetic Decoding Pulmonary Alveolar Proteinosis in Children: A Case Report
Curr. Respir. Med. Rev. 21, 276 (2025); https://doi.org/10.2174/011573398X303101241016034335
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  • Article Type:     Case Report
Keyword(s): Broncho-alveolar lavage; bronchoscopy; corticosteroids; genetic testing; granulocyte-macrophage colony-stimulating factor; pulmonary alveolar proteinosis

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