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Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
- Source :
- Scientific Reports, Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
- Publication Year :
- 2021
- Publisher :
- Springer Nature, 2021.
-
Abstract
- Joubert syndrome (JS) is an inherited ciliopathy characterized by a distinctive cerebellar and brain stem malformation which is known as the “molar tooth sign” on axial brain images, hypotonia, and developmental delay. Approximately 25–30% of patients with JS have kidney disease and many of them progress to end-stage kidney disease (ESKD). However, there are few reports on the outcomes of renal replacement therapy (RRT) in patients with JS and ESKD. In this study, we clarified the clinical features, treatment, and outcomes of patients with JS who underwent RRT. We retrospectively analyzed the medical records and clinical characteristics of 11 patients with JS who underwent RRT between June 1994 and July 2019. Data are shown as the median (range). Gene analysis was performed in 8 of the 11 cases, and CEP290 mutations were found in four patients, two had TMEM67 mutations, one had a RPGRIP1L mutation, and one patient showed no mutation with the panel exome analysis. Complications in other organs included hydrocephalus in two cases, retinal degeneration in eight cases, coloboma in one case, liver diseases in four cases, and polydactyly in one case. Peritoneal dialysis (PD) was introduced in seven cases, with a median treatment duration of 5.4 (3.4–10.7) years. Hemodialysis was performed using arteriovenous fistula in two cases, and kidney transplantation was performed 9 times in eight cases. Only one of the grafts failed during the observation period of 25.6 (8.2–134.2) months. The glomerular filtration rate at the final observation was 78.1 (41.4–107.7) mL/min/1.73 m2. The median age at the final observation was 13.4 (5.6–25.1) years, and all patients were alive except one who died of hepatic failure while on PD. Any type of RRT modality can be a treatment option for patients with JS and ESKD.
- Subjects :
- 0301 basic medicine
Nephrology
Male
medicine.medical_treatment
030232 urology & nephrology
Cell Cycle Proteins
030105 genetics & heredity
0302 clinical medicine
Cerebellum
Eye Abnormalities
Child
Kidney transplantation
Coloboma
Multidisciplinary
Kidney Diseases, Cystic
Treatment Outcome
Child, Preschool
Disease Progression
Medicine
Female
Hemodialysis
Adult
medicine.medical_specialty
Adolescent
Science
Joubert syndrome
Retina
Article
Peritoneal dialysis
03 medical and health sciences
Young Adult
Antigens, Neoplasm
Renal Dialysis
Internal medicine
medicine
Humans
Abnormalities, Multiple
Renal replacement therapy
Adaptor Proteins, Signal Transducing
Retrospective Studies
business.industry
Membrane Proteins
medicine.disease
Kidney Transplantation
Surgery
Cytoskeletal Proteins
Mutation
Kidney Failure, Chronic
business
Kidney disease
Subjects
Details
- Language :
- English
- ISSN :
- 20452322
- Volume :
- 11
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Scientific reports
- Accession number :
- edsair.doi.dedup.....740ddc0bd27eeccab9561f9b6afe4ffe