Hypercalciuria in Potassium‐losing Nephropathy:

McCredie, David A.; Rotenberg, E.; Williams, Alan L.

doi:10.1111/j.1440-1754.1974.tb02786.x

Cited by 35 publications

(19 citation statements)

References 17 publications

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“…Type 1 Bartter syndrome is characterized by the inability of patients to generate concentrated urine. Symptoms include the development of antenatal polyhydramnios (48,66), salt and volume loss after birth accompanied by hypokalemic alkalosis (2), hypercalciuria (43), excessive prostanoid formation (10,64), and hyperreninemia (18,63). Patients, especially infants, suffer from dehydration and low blood pressure (4) and are affected to various degrees by muscle weakness, fever, tetany, seizures, and growth and mental retardation (27,30,42,69).…”

Section: Functional Characteristics Of Nkcc2 Isoforms: Deletion Studiesmentioning

confidence: 99%

Isoforms of renal Na-K-2Cl cotransporter NKCC2: expression and functional significance

Castrop¹,

Schnermann²

2008

American Journal of Physiology-Renal Physiology

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The renal Na-K-2Cl cotransporter (NKCC2, BSC1) is selectively expressed in the apical membrane of cells of the thick ascending limb of the loop of Henle (TAL) and macula densa. NKCC2-dependent salt transport constitutes the major apical entry pathway for transepithelial salt reabsorption in the TAL. Although NKCC2 is encoded by a single gene (Slc12a1), differential splicing of the NKCC2 pre-mRNA results in the formation of several alternate transcripts. Thus three full-length splice isoforms of NKCC2 differ in their variable exon 4, resulting in transcripts for NKCC2B, NKCC2A, and NKCC2F. In addition to full-length isoforms, variants with truncated COOH-terminal ends have been described. The various splice isoforms of NKCC2 differ in their localization along the TAL and in their transport characteristics. Data in the literature are reviewed to assess the principles of NKCC2 differential splicing, the localization of NKCC2 splice isoforms along the TAL in various species, and the functional characteristics of the splice isoforms. In addition, we discuss the functional significance of NKCC2 isoforms for TAL salt retrieval and for the specific salt sensor function of macula densa cells based on studies using isoform-specific NKCC2-knockout mice. We suggest that different NKCC2 splice variants cooperate in salt retrieval along the TAL and that the coexpression of two splice variants (NKCC2B and NKCC2A) in the macula densa cells facilitates efficient salt sensing over wide ranges of fluctuating salt concentrations.

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Section: Functional Characteristics Of Nkcc2 Isoforms: Deletion Studiesmentioning

confidence: 99%

Isoforms of renal Na-K-2Cl cotransporter NKCC2: expression and functional significance

Castrop¹,

Schnermann²

2008

American Journal of Physiology-Renal Physiology

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“…By 1971, McCredie et al from Australia had described four patients with what they called "a variant of Bartter's syndrome" [16,17]. These were infants with potassium-losing nephropathy, but in addition marked hypercalciuria and nephrocalcinosis.…”

Section: The Pediatric Confusionmentioning

confidence: 97%

Threading through the mizmaze of Bartter syndrome

Proesmans

2006

Pediatr Nephrol

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The story, described here in detail, started in 1962 with the publication of a seminal paper by Frederic Bartter et al. in the December issue of the American Journal of Medicine. The authors reported two pediatric patients with hitherto undescribed features, namely growth and developmental delay associated with hypokalemic alkalosis and normal blood pressure despite high aldosterone production. It soon became clear that this condition was not so exceptional. The syndrome named after Bartter was actually identified in children as well as in adults, females as well as males and in all five continents. It took almost four decades to clarify the exact nature of the disease. Bartter disease is an autosomal recessive disorder with four genotypes and mainly two phenotypes. Moreover, there are acquired secondary forms of Bartter syndrome as well as pseudo-Bartter syndromes. The history demonstrates the power of genetics but also illustrates the fundamental and irreplaceable contributions from nephrologists and renal physiologists.

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“…Together with Bartter's syndrome type 2, which is caused by mutations in the KCNJ1 gene coding for ROMK (136,150), type 1 is classified as the antenatal, most severe form of the disease. The homozygous patients suffer from severe hypercalciuria, accompanied by nephrocalcinosis; nephrocalcinosis in type 1 Bartter's patients develops early, sometimes in utero (91). Fetal polyuria causes polyhydramnios.…”

Section: Pathophysiology Of Nkcc2mentioning

confidence: 99%

Physiology and pathophysiology of the renal Na-K-2Cl cotransporter (NKCC2)

Castrop

Schießl

2014

American Journal of Physiology-Renal Physiology

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The Na-K-2Cl cotransporter (NKCC2; BSC1) is located in the apical membrane of the epithelial cells of the thick ascending limb of the loop of Henle (TAL). NKCC2 facilitates ∼20-25% of the reuptake of the total filtered NaCl load. NKCC2 is therefore one of the transport proteins with the highest overall reabsorptive capacity in the kidney. Consequently, even subtle changes in NKCC2 transport activity considerably alter the renal reabsorptive capacity for NaCl and eventually lead to perturbations of the salt and water homoeostasis. In addition to facilitating the bulk reabsorption of NaCl in the TAL, NKCC2 transport activity in the macula densa cells of the TAL constitutes the initial step of the tubular-vascular communication within the juxtaglomerular apparatus (JGA); this communications allows the TAL to modulate the preglomerular resistance of the afferent arteriole and the renin secretion from the granular cells of the JGA. This review provides an overview of our current knowledge with respect to the general functions of NKCC2, the modulation of its transport activity by different regulatory mechanisms, and new developments in the pathophysiology of NKCC2-dependent renal NaCl transport.

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Hypercalciuria in Potassium‐losing Nephropathy:

Cited by 35 publications

References 17 publications

Isoforms of renal Na-K-2Cl cotransporter NKCC2: expression and functional significance

Isoforms of renal Na-K-2Cl cotransporter NKCC2: expression and functional significance

Threading through the mizmaze of Bartter syndrome

Physiology and pathophysiology of the renal Na-K-2Cl cotransporter (NKCC2)

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