Unexpected cause of repeated peritoneal dialysis-related complications: a case study of autism spectrum disorder with normal intelligence quotient in an adolescent
Abstract Background Autism spectrum disorder (ASD) is a common communication disorder, with an incidence rate of 3%. In most cases, clinicians can diagnose ASD in a single outpatient visit. However, in the case of ASD patients without intellectual disability, clinicians are sometimes unaware for a p...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-03-01
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| Series: | Renal Replacement Therapy |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s41100-023-00470-7 |
| _version_ | 1797853574609240064 |
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| author | Yuko Fujii Hideki Matsumura Akihiko Shirasu Hyogo Nakakura Satoshi Yamazaki Tetsufumi Kanazawa Nanako Saito Hajime Hirano Haruhito Azuma Kandai Nozu Akira Ashida |
| author_facet | Yuko Fujii Hideki Matsumura Akihiko Shirasu Hyogo Nakakura Satoshi Yamazaki Tetsufumi Kanazawa Nanako Saito Hajime Hirano Haruhito Azuma Kandai Nozu Akira Ashida |
| author_sort | Yuko Fujii |
| collection | DOAJ |
| description | Abstract Background Autism spectrum disorder (ASD) is a common communication disorder, with an incidence rate of 3%. In most cases, clinicians can diagnose ASD in a single outpatient visit. However, in the case of ASD patients without intellectual disability, clinicians are sometimes unaware for a prolonged period that a patient has ASD. In such cases, delayed diagnosis can lead to serious complications. Case presentation An 18-year-old boy had repeated severe complications of peritoneal dialysis. At the age of 9, the patient presented with proteinuria, and 5 years later, he developed end-stage kidney disease. Percutaneous renal biopsy and the clinical symptoms revealed focal segmental glomerulosclerosis with Charcot-Marie-Tooth disease due to a gene mutation in INF2. Peritoneal dialysis was initiated at the age of 14, but led to many related complications, including peritonitis, hypertensive retinopathy and encephalopathy, and acute heart failure. Initially, we were unaware of his developmental characteristics and autism spectrum disorder without intellectual disability, but through lengthy observations by various healthcare professionals, his unique characteristics were noticed. Because the patient often displayed a discrepancy between behavior and speech, we cautiously studied his thoughts and behaviors, and developed a special approach to ensure safe peritoneal dialysis. Conclusions When many peritoneal dialysis-related complications occur in a patient with normal intelligence quotient, autism spectrum disorder should be considered as a possible cause. |
| first_indexed | 2024-04-09T19:51:45Z |
| format | Article |
| id | doaj.art-453829c51fed4e728fd6199c48e5e8d7 |
| institution | Directory Open Access Journal |
| issn | 2059-1381 |
| language | English |
| last_indexed | 2024-04-09T19:51:45Z |
| publishDate | 2023-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Renal Replacement Therapy |
| spelling | doaj.art-453829c51fed4e728fd6199c48e5e8d72023-04-03T05:41:30ZengBMCRenal Replacement Therapy2059-13812023-03-01911410.1186/s41100-023-00470-7Unexpected cause of repeated peritoneal dialysis-related complications: a case study of autism spectrum disorder with normal intelligence quotient in an adolescentYuko Fujii0Hideki Matsumura1Akihiko Shirasu2Hyogo Nakakura3Satoshi Yamazaki4Tetsufumi Kanazawa5Nanako Saito6Hajime Hirano7Haruhito Azuma8Kandai Nozu9Akira Ashida10Department of Pediatrics, Osaka Medical and Pharmaceutical UniversityDepartment of Pediatrics, Osaka Medical and Pharmaceutical UniversityDepartment of Pediatrics, Hirakata City HospitalDepartment of Pediatrics and Department of Blood Purifying Center, Amanokawa HospitalDepartment of Pediatrics and Department of Blood Purifying Center, Amanokawa HospitalDepartment of Neuropsychiatry, Osaka Medical and Pharmaceutical UniversityDepartment of Neuropsychiatry, Osaka Medical and Pharmaceutical UniversityDepartment of Urology, Osaka Medical and Pharmaceutical UniversityDepartment of Urology, Osaka Medical and Pharmaceutical UniversityDepartment of Pediatrics, Kobe University Graduate School of MedicineDepartment of Pediatrics, Osaka Medical and Pharmaceutical UniversityAbstract Background Autism spectrum disorder (ASD) is a common communication disorder, with an incidence rate of 3%. In most cases, clinicians can diagnose ASD in a single outpatient visit. However, in the case of ASD patients without intellectual disability, clinicians are sometimes unaware for a prolonged period that a patient has ASD. In such cases, delayed diagnosis can lead to serious complications. Case presentation An 18-year-old boy had repeated severe complications of peritoneal dialysis. At the age of 9, the patient presented with proteinuria, and 5 years later, he developed end-stage kidney disease. Percutaneous renal biopsy and the clinical symptoms revealed focal segmental glomerulosclerosis with Charcot-Marie-Tooth disease due to a gene mutation in INF2. Peritoneal dialysis was initiated at the age of 14, but led to many related complications, including peritonitis, hypertensive retinopathy and encephalopathy, and acute heart failure. Initially, we were unaware of his developmental characteristics and autism spectrum disorder without intellectual disability, but through lengthy observations by various healthcare professionals, his unique characteristics were noticed. Because the patient often displayed a discrepancy between behavior and speech, we cautiously studied his thoughts and behaviors, and developed a special approach to ensure safe peritoneal dialysis. Conclusions When many peritoneal dialysis-related complications occur in a patient with normal intelligence quotient, autism spectrum disorder should be considered as a possible cause.https://doi.org/10.1186/s41100-023-00470-7Peritoneal dialysisAutism spectrum disorderIntellectual disabilityIntelligence quotientHypervolemiaFocal segmental glomerulonephritis |
| spellingShingle | Yuko Fujii Hideki Matsumura Akihiko Shirasu Hyogo Nakakura Satoshi Yamazaki Tetsufumi Kanazawa Nanako Saito Hajime Hirano Haruhito Azuma Kandai Nozu Akira Ashida Unexpected cause of repeated peritoneal dialysis-related complications: a case study of autism spectrum disorder with normal intelligence quotient in an adolescent Renal Replacement Therapy Peritoneal dialysis Autism spectrum disorder Intellectual disability Intelligence quotient Hypervolemia Focal segmental glomerulonephritis |
| title | Unexpected cause of repeated peritoneal dialysis-related complications: a case study of autism spectrum disorder with normal intelligence quotient in an adolescent |
| title_full | Unexpected cause of repeated peritoneal dialysis-related complications: a case study of autism spectrum disorder with normal intelligence quotient in an adolescent |
| title_fullStr | Unexpected cause of repeated peritoneal dialysis-related complications: a case study of autism spectrum disorder with normal intelligence quotient in an adolescent |
| title_full_unstemmed | Unexpected cause of repeated peritoneal dialysis-related complications: a case study of autism spectrum disorder with normal intelligence quotient in an adolescent |
| title_short | Unexpected cause of repeated peritoneal dialysis-related complications: a case study of autism spectrum disorder with normal intelligence quotient in an adolescent |
| title_sort | unexpected cause of repeated peritoneal dialysis related complications a case study of autism spectrum disorder with normal intelligence quotient in an adolescent |
| topic | Peritoneal dialysis Autism spectrum disorder Intellectual disability Intelligence quotient Hypervolemia Focal segmental glomerulonephritis |
| url | https://doi.org/10.1186/s41100-023-00470-7 |
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