Option of pre-emptive nephrectomy and renal transplantation for Bartter's syndrome.

Bartter's syndrome (BS) is an incurable genetic disease, with variable response to supportive therapy relating to fluid and electrolyte management. Poor control or therapy non-compliance may result in frequent life threatening episodes of dehydration, acidosis and hypokalemia, with resultant adverse effects on patient quality of life (QOL). We report, for the first time, pre-emptive bilateral native nephrectomies and successful renal transplantation, prior to the onset of ESRD, for severe, clinically brittle, neonatal BS, resulting in correction of metabolic abnormalities and excellent graft function. We propose that fragile BS should be considered as a possible indication for early native nephrectomies and pre-emptive renal transplantation, procedures that results in a 'cure' for the underlying disease and significant improvements in patient QOL.

Fístula gastrocólica na síndrome de Bartter em uso de indometacina: relato de dois casos / Gastrocolic fistula in Bartter's syndrome caused by indometacin: report of two cases

Os autores relatam dois casos de fístula gastrocólica causada por uso crônico de indometacina em pacientes com síndrome de Bartter, em acompanhamento no Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. O diagnóstico foi realizado por meio de trânsito intestinal, que evidenciou passagem de contraste da grande curvatura gástrica para o cólon transverso. O tratamento foi cirúrgico em ambos os casos.

The authors report two cases of gastrocolic fistula caused by chronic therapy with indometacin in patients with Bartter's syndrome followed at the outpatients clinic of "Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo", Brazil. The diagnosis was suggested by a barium meal that showed a gastrocolic fistula between the greater curvature of the stomach and the transverse colon. Treatment was surgical in the both cases.

[Endocrinological analysis before and after living-related renal transplantation in a patient of Bartter's syndrome].

In order to clarify endocrinological changes before and after living-related renal transplantation in a patient of Bartter's syndrome involving chronic renal failure, serial quantitative determinations of the renin-angiotensin-aldosterone system and 24-hour urinary excretion of 6-keto-prostaglandin F1 alpha and kallikrein were performed. A male patient was admitted to hospital because of a pale face and short stature at the age of 13 years. He was 126 cm in height (M-3.8SD). Blood pressure was 110/60 mmHg and edema was not observed. Laboratory findings showed that his hematocrit was 22.1%, serum potassium 2.9 mEq/1, creatinine clearance was 30.7 ml/min/1.73m2 and beta 2-microgobulin was elevated to 39.9 mg/1 in urinalysis. Plasma renin activity and aldosterone were remarkably elevated to 24.23 ng/ml/hr and 738 pg/ml, respectively. The kidney biopsy specimen showed diffuse glomerulosclerosis and hypertrophic change of the juxtaglomerular apparatus was also demonstrated. He was diagnosed as Bartter's syndrome with short stature and chronic renal failure. At the age of 18, he was introduced on hemodialysis and the living-related renal transplantation was performed the next year. Two weeks after the transplantation, plasma renin activity, angiotensin, I,II and aldosterone were markedly changed from 37.8 to 2.3 ng/ml/hr, 2400 to 220 pg/ml, 256 to 17 pg/ml and 3700 to 110 pg/ml, respectively. Urine prostaglandin F 1 alpha was improved from 860 to 321 ng/day and kallikrein was also changed from 400 to 25.2 micrograms/day. These results indicated that abnormalities of several hormones in Bartter's syndrome could be normalized by living-related renal transplantation.(ABSTRACT TRUNCATED AT 250 WORDS)

Anesthesia and Bartter's syndrome: a case report and review.

A 22-year-old female with Bartter's syndrome presented at 40 weeks' gestation for elective cesarean section under general anesthesia. Her usual medication was ibuprofen and potassium supplements. Preoperative potassium was 3.3 mmol/L, and in anticipation of difficulties in fluid, electrolyte, and acid-base management, a central line and urinary catheter were inserted and blood gases measured. In the first 20 hours postdelivery she had a brisk diuresis and required 3.5 L of crystalloid to maintain her central venous pressure and 100 mmol of potassium to prevent significant hypokalemia. The main features of Bartter's syndrome are growth retardation, hypertrophy, and hyperplasia of the juxtaglomerular apparatus, increased angiotensin II, hyperaldosteronism, hypokalemic alkalosis, normal blood pressure, and decreased response to pressors. The precise biochemical lesion is unknown, but it is most probably an abnormality of chloride transport in the loop of Henle. Anesthetic management is a major challenge, requiring a thorough understanding of the pathophysiology of the syndrome. The specific aims of the anesthetist are to maintain cardiovascular stability, control serum potassium, and prevent renal damage. Perioperative fluid balance must be meticulously managed, and drugs dependent on renal excretion must be used with caution. Metabolic alkalosis may interfere with the binding of drugs. The patient's short stature, platelet abnormalities, and reduced responsiveness to pressors all make regional anesthesia theoretically hazardous.