Kidney Failure in Infants and Children

Chan, James C.M.; Williams, Debra M.; Roth, Karl S.

doi:10.1542/pir.23-2-47

Cited by 81 publications

(58 citation statements)

References 11 publications

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“…Early reports indicated that this rare condition was associated with a very poor clinical outcome. Of the 12 patients reported in the English language literature between 1977 and 1987, 50% died and 67% of the survivors developed chronic kidney disease or hypertension [6][7][8][9][10][11][12][13].…”

Section: Historical Perspectivementioning

confidence: 99%

Streptococcus pneumoniae-associated hemolytic uremic syndrome

2008

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Section: Historical Perspectivementioning

confidence: 99%

Streptococcus pneumoniae-associated hemolytic uremic syndrome

2008

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“…Chronic kidney disease (CKD) affects almost 500 in 1 million people per year, among which 1%-2% are in the paediatric age range (0-17 years old) [1] . Childhood and adolescent CKD, particularly in later stages, are associated with serious cardiovascular, neurologic, metabolic and other clinical complications.…”

Section: Introductionmentioning

confidence: 99%

Chronic kidney disease in children and adolescents in Brunei Darussalam

Tan

Lin

Han

et al. 2016

WJN

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AIM:To determine epidemiology of Bruneian paediatric chronic kidney disease (CKD) patients and factors that affect growth and progression of disease. METHODS:A cross-sectional study conducted on all children below 18 years old who were diagnosed with CKD over a ten year period (2004 to 2013). The reference population was all children (< 18 years old) suffering from CKD and attending the tertiary paediatric nephrology clinic in Brunei Darussalam. Demographic (current age, age of diagnosis, gender, ethnicity), anthropometric (weight and height), diagnosis, laboratory data (serum creatinine and haemoglobin, urinalysis) and blood pressure were extracted from the patients' clinical case notes and recorded using a data collection form. RESULTS:The study revealed a high national prevalence [736 per million child population (pmcp)] and incidence (91 pcmp) of CKD. If CKD was defined at Stage 1, 2, 3, 4 or 5, the associated prevalence figures were 736, 132, 83, 50 and 33 pmcp. Glomerulonephritis accounted for 69% of all prevalent cases, followed by congenital abnormalities of kidney and urinary tract (20%) and tubulointerstitial diseases (8%). Minimal change disease being the most common histological diagnosis. The median age of diagnosis was 4.5 years, with congenital disease patients experiencing an earlier onset of diagnosis. A large ORIGINAL ARTICLE Observational Studyproportion of patients were below the 5% percentile for height and weight. Non-glomerular diseases, adolescent and female patients were significantly associated with poor growth, but not glomerular filtration rate, age of diagnosis or steroid usage. CONCLUSION:Brunei has a high prevalence of chronic kidney disease in the paediatric population with glomerulonephritis being the most common disease.

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“…U rinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life (1). Branchio-oto-renal syndrome (BOR) (OMIM 113650; www.…”

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confidence: 99%

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

Ruf

Silvius

et al. 2004

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

375

379

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Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life. Branchio-otic (BO) syndrome is an autosomal dominant developmental disorder characterized by hearing loss. In branchio-oto-renal (BOR) syndrome, malformations of the kidney or urinary tract are associated. Haploinsufficiency for the human gene EYA1, a homologue of the Drosophila gene eyes absent (eya), causes BOR and BO syndromes. We recently mapped a locus for BOR͞BO syndrome (BOS3) to human chromosome 14q23.1. Within the 33-megabase critical genetic interval, we located the SIX1, SIX4, and SIX6 genes, which act within a genetic network of EYA and PAX genes to regulate organogenesis. These genes, therefore, represented excellent candidate genes for BOS3. By direct sequencing of exons, we identified three different SIX1 mutations in four BOR͞BO kindreds, thus identifying SIX1 as a gene causing BOR and BO syndromes. To elucidate how these mutations cause disease, we analyzed the functional role of these SIX1 mutations with respect to proteinprotein and protein-DNA interactions. We demonstrate that all three mutations are crucial for Eya1-Six1 interaction, and the two mutations within the homeodomain region are essential for specific Six1-DNA binding. Identification of SIX1 mutations as causing BOR͞BO offers insights into the molecular basis of otic and renal developmental diseases in humans.

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Kidney Failure in Infants and Children

Cited by 81 publications

References 11 publications

Streptococcus pneumoniae-associated hemolytic uremic syndrome

Streptococcus pneumoniae-associated hemolytic uremic syndrome

Chronic kidney disease in children and adolescents in Brunei Darussalam

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

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