Familial Bartter's Syndrome

Ogihara, Toshio; Maruyama, Anna; Nugent, Charles A.; Hata, Toshiyuki; Mikami, Hiroshi; Kumahara, Yuichi

doi:10.1001/archinte.1982.00340180064015

Cited by 5 publications

(5 citation statements)

References 12 publications

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“…Traditionally, its decrease has been taken as evidence of a loop defect by Gill and Bartter [6], and most other authors [22][23][24][25]27,28,33], since loop solute reabsorption is principally responsible for free water formation. An alternative, but less likely, explanation is a profound decrease in the quantitatively less important distal tubule solute reabsorption.…”

Section: Discussionmentioning

confidence: 99%

Variant of Bartter’s Syndrome with a Distal Tubular rather than Loop of Henle Defect

Puschett¹,

Greenberg²,

Mitro³

et al. 1988

Nephron

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A 19-year-old normotensive patient had all of the clinical features of Bartter’s syndrome: hypokalemia, elevated renin and aldosterone levels and increased excretion of prostaglandin E. In contrast to the patients described by Bartter, the patient had a normal capacity to form solute-free water, suggesting intact loop of Henle function. Baseline potassium and chloride excretion rates were higher than those observed in 5 normal subjects, but the response to intravenous chlorothiazide, a drug which acts in the early distal convolute tubule, was abnormal. While chloride excretion rose by only 61% in this patient, it increased sixfold in the normal subjects. Sodium excretion quadrupled in the controls but less than doubled in this patient. Roughly equivalent increments in potassium excretion occurred in normals and controls, suggesting that the patient’s distal potassium-secretory mechanism was intact. Review of the literature indicates that whether the site of the abnormal renal tubular potassium (chloride) leak is the proximal tubule, the loop of Henle or the distal convoluted tubule, patients may achieve features indistinguishable from those previously reported as characteristic for Bartter’s syndrome. If loop of Henle malfunction is required to diagnose classical Bartter’s syndrome, then our patient (and several reported elsewhere) has a variant form.

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Section: Discussionmentioning

confidence: 99%

Variant of Bartter’s Syndrome with a Distal Tubular rather than Loop of Henle Defect

Puschett¹,

Greenberg²,

Mitro³

et al. 1988

Nephron

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“…Her blood pressure was relatively low, around 100/ 60 mmHg, when she was initially diagnosed with familial Bartter's syndrome at the age of 38 years. 5 Blood pressure was 120-135/70-84 mmHg at the age of 40-52 years and increased to 138-148/75-84 mmHg at 53-55 years, and further increased to 150-174/76-90 mmHg at 56-57 years. The renal function had been normal and plasma renin activity had been high all her life after diagnosed with familial Bartter's syndrome; 'creatinine level was 0.5-0.7 mg/dl, creatinine clearance was 90 ml/min/ m 2 at 38 years old and 89 ml/min/m 2 at 57 years old' (Figure 1).…”

Section: Case Reportmentioning

confidence: 93%

Hypertension in a patient with Gitelman's syndrome

et al. 2004

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Gitelman's syndrome is an autosomal recessive disorder characterized by sodium wasting and hypotension. A middle-aged woman was diagnosed with Gitelman's syndrome because of typical clinical manifestations in the youth and homozygous mutations of 18-base-pair insertion in exon 6 of thiazide-sensitive NaCl-cotransporter gene. It was unusual that she showed hypertension with advancing age. Her serum potassium levels remained low at around 3.5 mEq/l despite potassium supplementation. This case demonstrates that hypertension could result in spite of the extremely decreased sodium reabsorption in Gitelman's syndrome and that essential hypertension is genetically heterogeneous, and abnormality of all genes may not be necessarily required to cause blood pressure rise.

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“…Accordingly, the higher incidence in Kuwait could be explained by the higher rate of consanguineous marriages (60%) among the Kuwaiti population 13 . Several reports of familial cases of BS have appeared in the literature 6 , 7 , 11 …”

Section: Discussionmentioning

confidence: 99%

“…Hence, it is important to differentiate Bartter's syndrome from other similar disorders 3 –5 . Familial 6 –8 and non‐familial 1 , 2 occurrence has been reported in the literature. The general consensus is that it is an inherited, autosomal recessive disorder 9 , 10 and has been reported worldwide from all races.…”

mentioning

confidence: 99%