Evidence map›Paper›PMID 28161266›Full record

ArticleNephrologie & therapeutique2017

Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.

Neveen A Soliman, Marwa M Nabhan, Safaa M Abdelrahman, Hanan Abdelaziz, Rasha Helmy, Khaled Ghanim, Hafez M Bazaraa, Ahmed M Badr, Omar A Tolba, Magd A Kotb and 2 more

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Article in Nephrologie & therapeutique, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
–field-weighted citation impact
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

28 citing papers in PubMed.

  1. Article
  2. Article
  3. Global access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Observational
  10. Primary hyperoxaluria: a case series.Journal of medical case reports · 2023
    Article
  11. Article
  12. La Tunisie medicale · 2023
    Article
  13. Review
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Treatment of primary hyperoxaluria type 1.Clinical kidney journal · 2022
    Review
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Neveen A SolimanDepartment of pediatrics, Kasr Al Ainy School of Medicine, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; EGORD, Egyptian group of orphan renal diseases, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; Center of pediatric nephrology and transplantation, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt. Electronic address: nsoliman@kasralainy.edu.eg.
Marwa M NabhanDepartment of pediatrics, Kasr Al Ainy School of Medicine, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; EGORD, Egyptian group of orphan renal diseases, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; Center of pediatric nephrology and transplantation, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt.
Safaa M AbdelrahmanDepartment of pediatrics, Kasr Al Ainy School of Medicine, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; EGORD, Egyptian group of orphan renal diseases, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; Center of pediatric nephrology and transplantation, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt.
Hanan AbdelazizDepartment of pediatrics, Kasr Al Ainy School of Medicine, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; EGORD, Egyptian group of orphan renal diseases, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; Center of pediatric nephrology and transplantation, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt.
Rasha HelmyDepartment of pediatrics, Kasr Al Ainy School of Medicine, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; EGORD, Egyptian group of orphan renal diseases, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; Center of pediatric nephrology and transplantation, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt.
Khaled GhanimDepartment of pediatrics, Kasr Al Ainy School of Medicine, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt.
Hafez M BazaraaDepartment of pediatrics, Kasr Al Ainy School of Medicine, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; EGORD, Egyptian group of orphan renal diseases, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; Center of pediatric nephrology and transplantation, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt.
Ahmed M BadrDepartment of pediatrics, Kasr Al Ainy School of Medicine, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; EGORD, Egyptian group of orphan renal diseases, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; Center of pediatric nephrology and transplantation, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt.
Omar A TolbaDepartment of pediatrics, Kasr Al Ainy School of Medicine, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt.
Magd A KotbDepartment of pediatrics, Kasr Al Ainy School of Medicine, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt; Pediatric hepatology unit, Cairo University, 2, Elrasheed street, Mounira, 11617 Cairo, Egypt.
Khaled M EweedaNephrology division, Military medical academy, 7, Ehsan abdelkodos street, Manshiet Elbakry, 11774 Cairo, Egypt.
Alaa FayezDepartment of general surgery, Ain Shams University, El-Khalifa El-Maamoun, Al Waili, 11588 Cairo, Egypt.

Funding

Primary HyperoxaluriaU54DK083908 · NIDDK · MAYO CLINIC ROCHESTER · PI MILLINER, DAWN SCHMAUTZ · 2009 to 2018
$12.3M
NIDDK NIH HHS U54 DK083908
6 · The paper itself

Abstract

BACKGROUND AND

aimPrimary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients.

methodsThis descriptive cohort study included patients with presumable PH1 presenting with nephrolithiasis and/or nephrocalcinosis (NC). Precise clinical characterization of renal phenotype as well as systemic involvement is reported. AGXT mutational analysis was performed to confirm the diagnosis of PH1.

resultsThe study cohort included 26 patients with presumable PH1 with male to female ratio of 1.4:1. The median age at time of diagnosis was 6 years, nevertheless the median age at initial symptoms was 3 years. Thirteen patients (50%) were diagnosed before the age of 5 years. Two patients had no symptoms and were diagnosed while screening siblings of index patients. Seventeen patients (65.4%) had reached end-stage renal disease (ESRD): 6/17 (35.3%) during infancy, 4/17 (23.5%) in early childhood and 7/17 (41.29%) in late childhood. Two patients (7.7%) had clinically manifest extra renal (retina, heart, bone, soft tissue) involvement. Mutational analysis of AGXT gene confirmed the diagnosis of PH1 in 15 out of 19 patients (79%) where analysis had been performed. Fifty percent of patients with maintained renal functions had projected 10 years renal survival.

conclusionPH1 is a heterogeneous disease with wide spectrum of clinical, imaging and functional presentation. More than two-thirds of patients presented prior to the age of 5 years; half of them with the stormy course of infantile PH1. ESRD was the commonest presenting manifestation in two-thirds of our cohort.

Indexed as

MutationAdultChildChild, PreschoolCohort StudiesConsanguinityEgyptFemaleHumansHyperoxaluria, PrimaryInfantKidney Failure, ChronicMaleNephrocalcinosisNephrolithiasisPhenotypeAlanine-glyoxylate transaminasePyridoxineTransaminasesVitamin B ComplexEnd-stage renal diseaseNephrocalcinosisNephrolithiasisOxalosisPost-transplantation recurrencePrimary hyperoxaluria type 1

Identifiers

PMID28161266
PMCPMC5921832

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