Genotype/phenotype observations in African Americans with Bartter syndrome

Journal of Pediatrics

Volumn 139, Issue 1, 2001, Pages 105-110

  Schurman, Scott J ^a,b,c   Perlman, Sharon A ^a,b,c   Sutphen, Rebecca ^a,b,c   Campos, Alfonso ^a,b,c   Garin, Eduardo H ^a,b,c   Cruz, Dinna N ^a,b,c   Shoemaker, Lawrence R ^a,b,c  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c University of Louisville School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; INDOMETACIN; POTASSIUM CHLORIDE; SPIRONOLACTONE;

ADOLESCENT; ARTICLE; BARTTER SYNDROME; BIOASSAY; CALCIUM METABOLISM; CHILD; CLINICAL ARTICLE; GENE DELETION; GENE MUTATION; GENOTYPE; HENLE LOOP; HOMOZYGOSITY; HUMAN; KIDNEY CALCIFICATION; NEGRO; PHENOTYPE; PRIORITY JOURNAL; URINARY EXCRETION;

EID: 0034968357     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2001.115020     Document Type: Article

References (25)

1. Hyperplasia of juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis
2. + channel, ROMK
3. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: Evidence for genetic heterogeneity
4. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
5. Novel variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome
6. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
7. Mutations in the chloride channel gene CLCNKB as a cause of Classic Bartter syndrome
8. Bartter and related syndromes: The puzzle is almost solved
9. Molecular characterization of the epithelial Na-K-Cl cotransporter isoforms
10. Physical growth: National Center for Health Statistics percentiles
11. The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents
12. Humoral factor in children with neonatal Bartter syndrome reduces bone calcium uptake in vitro
13. Conjunctive effects of fibroblast growth factor and glycosaminoglycan on bone metabolism in neonatal Bartter syndrome
14. Bone disc bioassay for calciotropic agents
15. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
16. Renal transplantation, chronic dialysis, and chronic renal insufficiency in children and adolescents
17. Idiopathic hypercalciuria in children: Prevalence and metabolic characteristics
18. Persistent, probably congenital hypokalemic metabolic alkalosis with hyaline degeneration of renal tubules and normal urinary aldosterone
19. Case studies of siblings with juxtaglomerular hyperplasia and secondary aldosteronism associated with severe azotemia and renal rickets - Bartter's syndrome or disease?
20. Bartter syndrome: Unraveling the pathophysiologic enigma
21. Calcium kinetics in hyperprostaglandin E syndrome
22. Ultrasound findings in juvenile nephronophthisis
23. Angiotensin-converting enzyme inhibition reduces the effect of bromethylamine-induced papillary necrosis and renal fibrosis
24. X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations
25. Two highly homologous members of the ClC chloride channel family in both rat and human kidney