Evidence map›Paper›PMID 33385262›Full record

ArticleDigestive diseases and sciences2021

Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.

Akihiko Kimura, Tatsuki Mizuochi, Hajime Takei, Akira Ohtake, Jun Mori, Kunihiro Shinoda, Takuji Hashimoto, Mureo Kasahara, Takao Togawa, Tsuyoshi Murai and 2 more

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Article in Digestive diseases and sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.3field-weighted citation impact, top 17% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. ∆Orphanet journal of rare diseases · 2023
    Article
  7. Healthy Patients WithJPGN reports · 2023
    Article
  8. Review
  9. Article
  10. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 10 institutions in 1 country.

Akihiko Kimura *Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011, Japan.
Tatsuki Mizuochi *Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011, Japan. mizuochi_tatsuki@kurume-u.ac.jp.ORCID 0000-0002-2943-7068
Hajime TakeiJunshin Clinic Bile Acid Institute, Tokyo, Japan.
Akira OhtakeDepartment of Pediatrics and Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
Jun MoriDepartment of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Kunihiro ShinodaDepartment of Pediatrics, Gifu Municipal Hospital, Gifu, Japan.
Takuji HashimotoDepartment of Pediatrics, Toho University School of Medicine, Tokyo, Japan.
Mureo KasaharaOrgan Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Takao TogawaDepartment of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Tsuyoshi MuraiSchool of Pharmaceutical Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan.
Takashi IidaDepartment of Chemistry, College of Humanities and Science, Nihon University, Tokyo, Japan.
Hiroshi Nittono *Junshin Clinic Bile Acid Institute, Tokyo, Japan.
Kurume University · JPTokyo Junshin University · JPGifu Municipal Hospital · JPHealth Sciences University of Hokkaido · JPKyoto Prefectural University of Medicine · JPNagoya City University · JPNational Center For Child Health and Development · JPNihon University · JPSaitama Medical University · JPToho University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWe encountered 7 Japanese patients with bile acid synthesis disorders (BASD) including 3β-hydroxy-Δ

aimWe aimed to clarify long-term outcome in the 7 patients with BASD as well as long-term efficacy of chenodeoxycholic acid (CDCA) treatment in the 5 patients with 3β-HSD deficiency or 5β-reductase deficiency.

methodsDiagnoses were made from bile acid and genetic analyses. Bile acid analysis in serum and urine was performed using gas chromatography-mass spectrometry. Clinical and laboratory findings and bile acid profiles at diagnosis and most recent visit were retrospectively obtained from medical records. Long-term outcome included follow-up duration, treatments, growth, education/employment, complications of treatment, and other problems.

resultsMedians with ranges of current patient ages and duration of CDCA treatment are 10 years (8 to 43) and 10 years (8 to 21), respectively. All 7 patients, who had homozygous or compound heterozygous mutations in the HSD3B7, SRD5B1, or CYP7B1 gene, are currently in good health without liver dysfunction. In the 5 patients with CDCA treatment, hepatic function gradually improved following initiation. No adverse effects were noted.

conclusionsWe concluded that CDCA treatment is effective in 3β-HSD deficiency and 5β-reductase deficiency, as cholic acid has been in other countries. BASD carry a good prognosis following early diagnosis and initiation of long-term CDCA treatment.

Indexed as

AdolescentAdrenal Hyperplasia, CongenitalAdultBile Acids and SaltsChenodeoxycholic AcidChildCytochrome P450 Family 7Gene Expression Regulation, EnzymologicGenetic Predisposition to DiseaseHumansJapanMutationOxidoreductasesSteroid HydroxylasesYoung Adult3-oxo-5 beta-steroid delta 4-dehydrogenaseBile Acids and SaltsChenodeoxycholic AcidCYP7B1 protein, humanCytochrome P450 Family 7OxidoreductasesSteroid HydroxylasesBile acid analysisBile acid synthesis disordersChenodeoxycholic acid treatmentCYP7B1HSD3B7SRD5B1

Identifiers

PMID33385262
OpenAlexW3117327548

What OpenQuestion holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.