End-stage renal disease in Kuwaiti children: An 8-year experience

Al‐Eisa, Amal; Samhan, M; Naseef, Majeda

doi:10.1016/j.transproceed.2004.07.024

Cited by 50 publications

(29 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…PH1 accounts for ∼1% of pediatric end-stage renal disease. In contrast, PH1 is more prevalent in countries where consanguineous marriages are common (10% and 13% of children in Kuwait and Tunisia, respectively) (27,28). The unfortunate endpoint with PH1 is renal failure, and the age at which it presents and the severity vary greatly as is typical with many mitochondrial and peroxisomal diseases (26).…”

Section: Discussionmentioning

confidence: 99%

Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1

Miyata¹,

Steffen²,

Johnson³

et al. 2014

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

Significance The lethal disorder, primary hyperoxaluria 1 (PH1), is caused by mutations in peroxisomal-localized alanine:glyoxylate aminotransferase (AGT). AGT contains a C-terminal peroxisomal targeting sequence, but mutations generate a strong N-terminal mitochondrial targeting sequence that directs AGT to mitochondria. Although mutant AGT is functional, the enzyme must be in the peroxisome to detoxify glyoxylate and prevent oxalate accumulation. We have identified a Food and Drug Administration-approved drug, dequalinium chloride (DECA), from a chemical genetic screen to identify probes that attenuate mitochondrial protein import. DECA treatment restores trafficking of mutant AGT from mitochondria to peroxisomes with a subsequent reduction in oxalate levels. Thus, repurposing DECA has potential in therapeutic strategies for PH1 because current clinical trials have not produced an effective treatment, short of organ transplant.

show abstract

Section: Discussionmentioning

confidence: 99%

Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1

Miyata¹,

Steffen²,

Johnson³

et al. 2014

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

show abstract

“…Median of hospitalization duration was 5 days among patients who died (interquartile range [2][3][4][5][6][7][8][9][10][11][12][13][14]. Hemodialysis was attempted in seven of these patients (15%).…”

Section: Symptoms Related To Crf At Entrymentioning

confidence: 99%

Etiology and outcome of chronic renal failure in hospitalized children in Ho Chi Minh City, Vietnam

Hiep¹,

Janssen

Ismaïli

et al. 2008

Pediatr Nephrol

View full text Add to dashboard Cite

The aim of this study was to investigate the etiology and treatment modalities and to determine mortality risks in hospitalized children with chronic renal failure (CRF) in Ho Chi Minh City, Vietnam. We reviewed the records of 310 children with CRF hospitalized in Ho Chi Minh City from January 2001 to December 2005. The average annual number cases was 4.8 per million child population native to Ho Chi Minh City. Median age was 14 years; 85% of patients were in end-stage renal failure. Associated illnesses were anemia (96%), hypertension (74%), and cardiopulmonary diseases (39%). Causes of included glomerulonephritis (30%) and congenital/hereditary anomalies (20%), but in 50% of children, the etiology was unavailable. Seventy-three percent of cases with end-stage renal failure did not benefit from renal replacement therapy. During hospitalization, 47 patients (15%) died. Mortality risks were higher in young children (1-4 years), in boys, and in patients with acquired pathologies. Severe metabolic acidosis was the main predictive factor of mortality by multivariate regression analysis. Our data shows a poor outcome due to late referral and limited facilities for renal replacement therapy in children with CRF hospitalized in Ho Chi Minh City.

show abstract

“…In Europe and North America, PH I accounts for about 1% of childhood ESRD, whereas prevalence rates of up to 10% are reported from some countries in the Middle East and North Africa. 4,5 With advanced renal insufficiency and failure to excrete the metabolic end product oxalic acid, the disease turns into a lethal multisystemic condition making renal replacement therapy and subsequent liver-kidney transplantation mandatory. [6][7][8][9][10] Type II PH (PHII, MIM# 260000; gene GRHPR, MIM# 604296) is a result of deficient glyoxylate reductase/hydroxypyruvate reductase (GRHPR) enzyme activity.…”

Section: Introductionmentioning

confidence: 99%

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

et al. 2012

View full text Add to dashboard Cite

Identification of mutations in the HOGA1 gene as the cause of autosomal recessive primary hyperoxaluria (PH) type III has revitalized research in the field of PH and related stone disease. In contrast to the well-characterized entities of PH type I and type II, the pathophysiology and prevalence of type III is largely unknown. In this study, we analyzed a large cohort of subjects previously tested negative for type I/II by complete HOGA1 sequencing. Seven distinct mutations, among them four novel, were found in 15 patients. In patients of non-consanguineous European descent the previously reported c.700 þ 5G4T splice-site mutation was predominant and represents a potential founder mutation, while in consanguineous families private homozygous mutations were identified throughout the gene. Furthermore, we identified a family where a homozygous mutation in HOGA1 (p.P190L) segregated in two siblings with an additional AGXT mutation (p.D201E). The two girls exhibiting triallelic inheritance presented a more severe phenotype than their only mildly affected p.P190L homozygous father. In silico analysis of five mutations reveals that HOGA1 deficiency is causing type III, yet reduced HOGA1 expression or aberrant subcellular protein targeting is unlikely to be the responsible pathomechanism. Our results strongly suggest HOGA1 as a major cause of PH, indicate a greater genetic heterogeneity of hyperoxaluria, and point to a favorable outcome of type III in the context of PH despite incomplete or absent biochemical remission. Multiallelic inheritance could have implications for genetic testing strategies and might represent an unrecognized mechanism for phenotype variability in PH.

show abstract

End-stage renal disease in Kuwaiti children: An 8-year experience

Cited by 50 publications

References 7 publications

Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1

Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1

Etiology and outcome of chronic renal failure in hospitalized children in Ho Chi Minh City, Vietnam

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

Contact Info

Product

Resources

About