Joubert syndrome diagnosed renally late
| Autor: | Catherine Byrne, Elizabeth Collard, Michel Michaelides, Michalis Georgiou, Abhijit Dixit |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty 030232 urology & nephrology Renal function Exceptional Cases Disease urologic and male genital diseases Joubert syndrome 03 medical and health sciences 0302 clinical medicine Nephronophthisis CKD Medicine retinal dystrophy Young adult AcademicSubjects/MED00340 Transplantation Kidney business.industry medicine.disease eye diseases medicine.anatomical_structure Renal pathology AHI1 mutation Nephrology molar tooth sign nephronophthisis prognosis business Retinal Dystrophies |
| Zdroj: | Clinical Kidney Journal |
| ISSN: | 2048-8513 |
| DOI: | 10.1093/ckj/sfaa007 |
| Popis: | Joubert syndrome is a genetically heterogeneous multisystem disorder typically diagnosed in childhood. Nephronophthisis is the most common renal pathology in Joubert syndrome, and renal failure usually occurs in childhood or in young adults. We report a 61-year-old female diagnosed with AHI1-related oculorenal Joubert syndrome, who presented initially with decline in renal function in her 50s. Our report describes exceptionally late presentation of renal disease in Joubert syndrome and highlights the importance of continued renal function monitoring in older adults with Joubert syndrome. |
| Databáze: | OpenAIRE |
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