Any modality of renal replacement therapy can be a treatment option for Joubert syndrome

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...

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Autores principales: Yoko Takagi, Kenichiro Miura, Tomoo Yabuuchi, Naoto Kaneko, Kiyonobu Ishizuka, Mariko Takei, Chikage Yajima, Yuka Ikeuchi, Yasuko Kobayashi, Takumi Takizawa, Masataka Hisano, Yoshinori Tsurusaki, Naomichi Matsumoto, Motoshi Hattori
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Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/1156977798244614b9e99bf1adf4235e
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spelling oai:doaj.org-article:1156977798244614b9e99bf1adf4235e2021-12-02T14:12:07ZAny modality of renal replacement therapy can be a treatment option for Joubert syndrome10.1038/s41598-020-80712-42045-2322https://doaj.org/article/1156977798244614b9e99bf1adf4235e2021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-80712-4https://doaj.org/toc/2045-2322Abstract 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.Yoko TakagiKenichiro MiuraTomoo YabuuchiNaoto KanekoKiyonobu IshizukaMariko TakeiChikage YajimaYuka IkeuchiYasuko KobayashiTakumi TakizawaMasataka HisanoYoshinori TsurusakiNaomichi MatsumotoMotoshi HattoriNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Yoko Takagi
Kenichiro Miura
Tomoo Yabuuchi
Naoto Kaneko
Kiyonobu Ishizuka
Mariko Takei
Chikage Yajima
Yuka Ikeuchi
Yasuko Kobayashi
Takumi Takizawa
Masataka Hisano
Yoshinori Tsurusaki
Naomichi Matsumoto
Motoshi Hattori
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
description 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.
format article
author Yoko Takagi
Kenichiro Miura
Tomoo Yabuuchi
Naoto Kaneko
Kiyonobu Ishizuka
Mariko Takei
Chikage Yajima
Yuka Ikeuchi
Yasuko Kobayashi
Takumi Takizawa
Masataka Hisano
Yoshinori Tsurusaki
Naomichi Matsumoto
Motoshi Hattori
author_facet Yoko Takagi
Kenichiro Miura
Tomoo Yabuuchi
Naoto Kaneko
Kiyonobu Ishizuka
Mariko Takei
Chikage Yajima
Yuka Ikeuchi
Yasuko Kobayashi
Takumi Takizawa
Masataka Hisano
Yoshinori Tsurusaki
Naomichi Matsumoto
Motoshi Hattori
author_sort Yoko Takagi
title Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
title_short Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
title_full Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
title_fullStr Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
title_full_unstemmed Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
title_sort any modality of renal replacement therapy can be a treatment option for joubert syndrome
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/1156977798244614b9e99bf1adf4235e
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