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  • 1
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. We demonstrate here that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause ...
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Analysis of patients with inherited hypokalaemic alkalosis resulting from salt–wasting has proved fertile ground for identification of essential elements of renal salt homeostasis and blood–pressure regulation. We now demonstrate linkage of this phenotype to a segment of chromosome 1 ...
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  • 3
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Mutations in the Na–K–2CI cotransporter (NKCC2), a mediator of renal salt reabsorption, cause Barrier's syndrome, featuring salt wasting, hypokalaemic alkalosis, hypercalciuria and low blood pressure. NKCC2 mutations can be excluded in some Bartter's kindreds, prompting examination of ...
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  • 4
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Pseudohypoaldosteronism type I (PHA1) is characterized by neonatal renal salt wasting with dehydration, hypotension, hyperkalaemia and metabolic acidosis, despite elevated aldosterone levels. Two forms of PHA1 exist. An autosomal recessive form features severe disease with manifestations ...
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 4 (1990), S. 268-275 
    ISSN: 1432-198X
    Keywords: Acid-base ; Metabolic acidosis ; Renal tubular acidosis ; Urine acidification ; Bicarbonate reabsorption ; Potassium ; Ammonium
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The term renal tubular acidosis (RTA) is applied to a group of transport defects in the reabsorption of bicarbonate (HCO 3 − ), the excretion of hydrogen ions, or both. On clinical and pathophysiological grounds, RTA can be separated into three main types: distal RTA (type 1), proximal RTA (type 2) and hyperkalaemic RTA (type 4). Some patients present combined types of proximal and distal RTA or of hyperkalaemic and distal RTA. Diagnosis of RTA should be suspected when a patient presents a normal plasma anion gap, and hyperchloraemic metabolic acidosis. A normal plasma anion gap (Na+−[Cl−+HCO3 −]=8–16 mEq/l) reflects loss of HCO3 − from the extracellular fluid via the gastro-intestinal tract or the kidney, dilution of extracellular buffer or administration of hydrochloric acid (HCl) or its precursors. Distinction of RTA from other disorders is greatly facilitated by the study of the urine anion gap (Na++K+−Cl−). This index estimates the urinary concentration of ammonium in a patient with hyperchloraemic metabolic acidosis. A negative urine anion gap (Cl−≫Na++K+) suggests the presence of gastro-intestinal or renal loss of HCO3 −, while a positive urine anion gap (Cl−〈Na++K+) is indicative of a distal acidification defect. Determination of plasma potassium, of urine pH at low plasma HCO3 − concentration, and of urineP co 2 and fractional excretion of HCO3 − at normal plasma HCO3 − concentration permits the differentiation between the various types of RTA.
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  • 6
    ISSN: 1432-198X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 9 (1995), S. 364-374 
    ISSN: 1432-198X
    Keywords: Potassium ; Renal potassium excretion ; Extrarenal potassium homeostasis ; Hypokalaemia ; Hyperkalaemia ; Renal failure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Although only 2% of the body potassium is present in the extracellular space, its concentration is finely regulated by the internal balance, or distribution of potassium between the intracellular and extracellular compartments, and by the external balance, or difference between intake and output of potassium. Internal balance is modulated by a host of factors, including insulin, epinephrine, extracellular pH and plasma tonicity. Potassium output from the body is mainly determined by renal excretion. Renal secretion of potassium takes place predominantly in the principal cells of late distal and cortical collecting tubules, by a process involving the accumulation of potassium in the cell by the activity of the basolateral Na+,K+-ATPase and its exit through luminal conductive channels. The factors regulating renal potassium secretion are potassium intake, rate of tubular fluid flow, distal sodium delivery, acid-base status and aldosterone. Hypokalaemia may result from a low potassium intake, excessive gastrointestinal, cutaneous or renal losses and altered body distribution. Aetiological diagnosis and therapy are best accomplished when the acid-base status is assessed at the same time. Before establishing the diagnosis of hyperkalaemia, spurious hyperkalaemia due to haemolysis or release of potassium from cells during clot retraction (pseudohyperkalaemia) should be ruled out. Hyperkalaemia may result from exogenous or endogenous loading, decreased renal output and altered body distribution. Acute hyperkalaemia represents an emergency situation which requires immediate therapy.
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 9 (1995), S. 423-427 
    ISSN: 1432-198X
    Keywords: Magnesium homeostasis ; Premature and full-term neonates
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Renal handling of magnesium (Mg) has not been comprehensively studied in the newborn period due to the difficulty, until recently, of measuring the diffusible fraction of plasma Mg (UfMg). In the present study this methodology was used to assess Mg homeostasis in 84 newborn infants of different postconceptional age (26–42 weeks), weight (720–4,830 g) and postnatal age (1–72 days). Very premature infants (postconceptional age less than 35 weeks) had significantly higher values of plasma Mg than mature newborn infants. Plasma Mg related inversely to postconceptional age, weight, plasma total protein and plasma calcium, and directly to plasma potassium. Stepwise multiple regression analysis revealed that postconceptional age was the unique factor contributing to variations in plasma Mg. Plasma values of UfMg were the same in preterm as in term infants but, when expressed as a fraction of total plasma Mg (UfMg/Mg), they were significantly lower in very preterm infants. Fractional excretion of Mg and the ratio of urine Mg to urine creatinine did not vary as a function of postconceptional age. These results indicate that plasma UfMg is kept constant at different gestational ages despite variations in total plasma Mg; furthermore, no functional immaturity is present for renal tubular reabsorption of Mg, even in very low birth weight infants.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 1 (1987), S. 465-472 
    ISSN: 1432-198X
    Keywords: Hypomagnesaemia ; Hypokalaemia ; Hypermagnesiuria ; Hypercalciuria ; Hypocalciuria ; Nephrocalcinosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cases of hypomagnesaemia of hereditary renal origin represent at least three different congenital disorders of tubular reabsorption of magnesium (Mg).Isolated familial hypomagnesaemia has been reported in a heterogeneous group of patients and an autosomal dominant pattern of inheritance has often been found to be present.Familial hypokalaemia-hypomagnesaemia, inherited as an autosomal recessive trait, has been reported in 17 patients and we now describe 3 additional cases. Hypomagnesaemia is accompanied by hypokalaemia, metabolic alkalosis, hypocalciuria and moderate sodium chloride wasting. Titration of renal Mg reabsorption indicates the presence of a low threshold but a normal Tm. The inherited defect is probably situated at the level of the distal convoluted tubule and mimics the therapeutic effect of thiazides. This condition is frequently confused with Bartter's syndrome.Familial hypomagnesaemia-hypercalciuria, also inherited as an autosomal resessive trait, has been reported in at least 15 patients and we now add 3 new cases. Hypomagnesaemia is always accompanied by hypercalciuria and nephrocalcinosis. Ocular abnormalities such as myopia and horizontal nystagmus are often present. Hypermagnesiuria is of a greater degree than that observed in the previous entity and reflects a low Tm of Mg reabsorption. The defect must be situated at the level of the ascending limb of the loop of Henle and affects the transport of both calcium and Mg but not of sodium and chloride. This condition has not been clearly separated from hereditary distal renal tubular acidosis in the literature.
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  • 10
    ISSN: 1432-198X
    Keywords: Key words: Salt-losing nephropathy ; Renal sodium excretion ; Sodium ; Atrial natriuretic peptide ; Plasma renin-angiotensin system ; Vasopressin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. A state of normokalemic renal sodium wasting associated with an apparently inappropriate secretion of atrial natriuretic peptide (ANP) has not been previously recognized. We here report an 11-year-old boy who presented with a chronic “salt-losing” nephropathy manifested by normonatremic or mildly hyponatremic extracellular fluid volume depletion, hypodipsia, absence of salt appetite, normokalemic metabolic alkalosis, hyper-reninemic hyperaldosteronism, hypertrophy of the juxtaglomerular apparatus, and highly conserved capacities for concentrating diluting the urine. Plasma ANP values were paradoxically elevated (between 10 and 47 fmol/ml), despite the coexistence of intravascular volume depletion and increased plasma levels of renin and aldosterone. Although the patient had some clinical similarities to Bartter’s syndrome, fractional sodium chloride (NaCl) reabsorption during hypotonic saline diuresis was normal and no clinical amelioration was observed while on indomethacin therapy. Neither a tumor nor cardiac or cerebral abnormalities, which could be responsible for the increased ANP secretion, were detected. These clinical, biochemical, and histological features have not been previously described together and may represent a new clinical syndrome. The pathophysiology of this entity remains unknown, but an attractive, although unproven, hypothesis is that the renal defect in NaCl reabsorption in this patient could be related to an inappropriate and unregulated secretion of ANP.
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