{"title":"遗传性肺泡蛋白沉积症在5岁儿童:诊断见解和治疗方法","authors":"Dhiran Sivasubramanian MBBS , Karthick Balasubramanian MBBS , Sathwik Sanil MBBS , Smrti Aravind MBBS , Virushnee Senthilkumar MBBS","doi":"10.1016/j.radcr.2025.04.094","DOIUrl":null,"url":null,"abstract":"<div><div>Hereditary pulmonary alveolar proteinosis (hPAP) is a rare disorder caused by mutations in the CSF2RA or CSF2RB genes, leading to impaired surfactant clearance by alveolar macrophages and subsequent respiratory dysfunction. A 5-year-old female with a 2-year history of poor weight gain, fatigue, and intermittent fever was evaluated. Clinical evaluation revealed hypoxemia, while high-resolution computed tomography (HRCT) of the chest showed the characteristic “crazy-paving” pattern suggestive of PAP. Bronchoalveolar lavage (BAL) yielded milky fluid with periodic acid-Schiff (PAS)-positive material, and genetic testing confirmed a homozygous mutation in the CSF2RA gene, consistent with hPAP. The patient underwent therapeutic whole lung lavage (WLL), resulting in significant clinical improvement. This case underscores the challenges of diagnosing pediatric hPAP and the value of integrating imaging, pathology, and genetic testing. While WLL remains the mainstay of treatment, further research is needed to develop targeted therapies.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 8","pages":"Pages 3855-3858"},"PeriodicalIF":0.0000,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hereditary pulmonary alveolar proteinosis in a 5-year-old child: Diagnostic insights and therapeutic approach\",\"authors\":\"Dhiran Sivasubramanian MBBS , Karthick Balasubramanian MBBS , Sathwik Sanil MBBS , Smrti Aravind MBBS , Virushnee Senthilkumar MBBS\",\"doi\":\"10.1016/j.radcr.2025.04.094\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Hereditary pulmonary alveolar proteinosis (hPAP) is a rare disorder caused by mutations in the CSF2RA or CSF2RB genes, leading to impaired surfactant clearance by alveolar macrophages and subsequent respiratory dysfunction. A 5-year-old female with a 2-year history of poor weight gain, fatigue, and intermittent fever was evaluated. Clinical evaluation revealed hypoxemia, while high-resolution computed tomography (HRCT) of the chest showed the characteristic “crazy-paving” pattern suggestive of PAP. Bronchoalveolar lavage (BAL) yielded milky fluid with periodic acid-Schiff (PAS)-positive material, and genetic testing confirmed a homozygous mutation in the CSF2RA gene, consistent with hPAP. The patient underwent therapeutic whole lung lavage (WLL), resulting in significant clinical improvement. This case underscores the challenges of diagnosing pediatric hPAP and the value of integrating imaging, pathology, and genetic testing. While WLL remains the mainstay of treatment, further research is needed to develop targeted therapies.</div></div>\",\"PeriodicalId\":53472,\"journal\":{\"name\":\"Radiology Case Reports\",\"volume\":\"20 8\",\"pages\":\"Pages 3855-3858\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-05-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Radiology Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1930043325003917\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Radiology Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1930043325003917","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Hereditary pulmonary alveolar proteinosis in a 5-year-old child: Diagnostic insights and therapeutic approach
Hereditary pulmonary alveolar proteinosis (hPAP) is a rare disorder caused by mutations in the CSF2RA or CSF2RB genes, leading to impaired surfactant clearance by alveolar macrophages and subsequent respiratory dysfunction. A 5-year-old female with a 2-year history of poor weight gain, fatigue, and intermittent fever was evaluated. Clinical evaluation revealed hypoxemia, while high-resolution computed tomography (HRCT) of the chest showed the characteristic “crazy-paving” pattern suggestive of PAP. Bronchoalveolar lavage (BAL) yielded milky fluid with periodic acid-Schiff (PAS)-positive material, and genetic testing confirmed a homozygous mutation in the CSF2RA gene, consistent with hPAP. The patient underwent therapeutic whole lung lavage (WLL), resulting in significant clinical improvement. This case underscores the challenges of diagnosing pediatric hPAP and the value of integrating imaging, pathology, and genetic testing. While WLL remains the mainstay of treatment, further research is needed to develop targeted therapies.
期刊介绍:
The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.