Adult presentation of Bartter syndrome type IV with erythrocytosis / Apresentação tardia de síndrome de Bartter tipo IV com eritrocitose

Abstract Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.

Resumo A síndrome de Bartter compreende um grupo raro de doenças autossômicas recessivas perdedoras de sal, decorrentes de mutações em genes expressos na porção ascendente espessa da alça de Henle, com fenótipos distintos, porém fisiopatogenia única, que consiste em redução severa da reabsorção de sódio, e aumento da excreção urinária de hidrogênio e potássio, levando à alcalose hipocalêmica. A síndrome de Bartter tipo IV, causada por mutações com perda de função da bartina, uma subunidade do canal de cloro CLC-Kb expressa no rim e ouvido interno, geralmente se apresenta nos períodos ante e neonatal. No presente relato, descreve-se um caso não usual de síndrome de Bartter tipo IV com apresentação tardia e fenótipo atenuado, diagnosticado por análise molecular, em um homem adulto de 20 anos que se apresentava com hipocalemia, surdez, hiperparatireoidismo secundário e eritrocitose.

Treatment of Bartter syndrome. Unsolved issue, / Tratamento da síndrome de Bartter. Problema não resolvido,

Objective: To describe the results of a long-term follow-up of Bartter syndrome patients treated with different drugs. Method: Patients were diagnosed according to clinical and laboratory data. Treatment protocol was potassium supplementation, sodium, spironolactone, and non-steroidal anti-inflammatory drug. Patients who developed proteinuria were converted to angiotensin conversion enzyme inhibitor. The variables evaluated for each drug were Z-score for weight and stature, proteinuria, creatinine clearance, gastrointestinal complaints, amount of potassium supplementation, serum potassium and bicarbonate levels, and findings of upper digestive endoscopy. Results: 20 patients were included. Follow-up was 10.1 ± 5.2 years. 17 patients received indomethacin for 5.9 ± 5.3 years; 19 received celecoxib, median of 35 months; and five received enalapril, median of 23 months. During indomethacin, a statistically significant increase was observed in the Z-score for stature and weight, without a change in the creatinine clearance. Seven of 17 patients had gastrointestinal symptoms, and upper digestive endoscopy evidenced gastritis in three patients and gastric ulcer in four patients. During celecoxib use, a significant increase was detected in the Z-score for stature and weight and a reduction of hyperfiltration; seven patients presented gastrointestinal symptoms, and upper digestive endoscopy evidenced mild gastritis in three. During enalapril use, no significant changes were observed in the Z-score for stature, weight and creatinine clearance. The conversion to enalapril resulted in a significant reduction in proteinuria. Conclusion: The authors suggest starting the treatment with celecoxib, and replacing by ACEi if necessary, monitoring the renal function. The safety and efficacy of celecoxib need to be assessed in larger controlled studies. .

Objetivo: Descrever os resultados de um acompanhamento de longo prazo de pacientes com síndrome de Bartter tratados com diferentes medicamentos. Método: Pacientes diagnosticados segundo os dados clínicos e laboratoriais. Protocolo de tratamento: suplementação de potássio, sódio, espironolactona e medicamento anti-inflamatório não esteroidal. Os pacientes que desenvolveram proteinúria foram submetidos a inibidor da enzima de conversão da angiotensina. As variáveis avaliadas durante o uso de cada medicamento foram: escore Z para peso e estatura, proteinúria, depuração da creatinina, queixas gastrointestinais, quantidade da suplementação de potássio, níveis séricos de potássio e bicarbonato e achados da endoscopia digestiva alta. Resultados: Foram incluídos 20 pacientes. O acompanhamento foi de 10,1 ± 5,2 anos. No total, 17 pacientes receberam indometacina por 5,9 ± 5,3 anos, 19 receberam celecoxib por aproximadamente 35 meses e cinco receberam enalapril por aproximadamente 23 meses. Durante o uso de indometacina, observamos um aumento estatístico significativo no escore Z para estatura e peso, sem alteração na depuração da creatinina. 7/17 pacientes apresentaram sintomas gastrointestinais, e a endoscopia digestiva alta mostrou gastrite em três pacientes e úlcera gástrica em quatro. Durante o uso de celecoxib, detectamos um aumento significativo no escore Z para estatura e peso e uma redução da hiperfiltração; sete pacientes apresentaram sintomas gastrointestinais e a endoscopia digestiva alta mostrou gastrite leve em três pacientes. Durante o uso de enalapril, não observamos alterações significativas no escore Z para estatura, peso e depuração da creatinina. A mudança da medicação para enalapril resultou em uma ...

An unusual cause of failure to thrive in a child.

Classic Bartter syndrome, depending on the severity, presents during childhood or adolescence as failure to thrive and may be incorrectly labelled as protein–energy malnutrition, particularly in children from a low socioeconomic stratum. We encountered a 5-year-old boy who was asymptomatic till the age of 3 years. Despite adequate dietary intake, he was admitted and managed in various hospitals as a case of protein–energy malnutrition. On evaluation, he had unusual features in the form of persistent hypokalaemia and polyuria leading us to suspect a renal tubular disorder. Treatment of the condition resulted in good weight gain and normalization of serum electrolytes.

Indomethacin-induced colon perforation in Bartter's syndrome.

Bartter's syndrome (BS) is an inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis, and hyperaldosteronism with normal blood pressure. A 22-year-old woman was referred at 23 week of gestation. Polyhydramnios was detected and the chloride level of the amniotic fluid was high. The mother was treated with indomethacin from 26 to 31 week of gestation. The newborn was delivered at 34 week of gestation. At 8th day of life, indomethacin was also started for the baby. After three days, a colonic perforation developed. Indomethacin-induced colon perforation is uncommon in antenatal Bartter's syndrome. This patient indicates that administration of indomethacin in both antenatal and/or early postnatal period may be associated with colonic perforation.

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.

Hypokalemic respiratory paralysis in Bartter's syndrome.

Life threatening hypokalemia can be a mode of presentation in renal salt wasting (Group-1) patients of Bartter's syndrome causing hypokalemic respiratory paralysis. Treatment on an emergent basis is required. In the long run, such patients may require higher doses of supplementary potassium and potassium sparing diuretics.

Recurrent hydramnios as a result of fetal Bartter's syndrome (a case report).

Bartter's syndrome has been reported as a rare case of hydramnios. A unique case of recurrent hydramnios in pregnancy as a result of fetal Bartter's syndrome on both occasions is presented.

Enfermedad de Bartter: ¿por qué se disnutren? / Bartter's disease: why do they get undernourished?

Se presentan los resultados de balances metabólicos llevados a cabo en tres lactantes portadores de enfermedad de Bartter, en los que resaltaron tanto una baja ingesta como una pérdida nitrogenada exagerada. A la luz de estos antecedentes se plantea una hipótesis acerca de la génesis de la acentuada desnutrición y retardo de crecimiento, de estos niños, basada en hechos fisiológicos previamente comprobados

Crecimiento compensatorio en un niño con síndrome de Bartter tratado con indometacina / Cath up growth in Bartter's syndrome after treatment with indometacine

Se estudió el crecimiento físico de un niño de 9.5 años con síndrome de Bartter tratado durante 4.9 años con indometacina. Se observó un crecimiento compensatorio completo de peso, estatura y edad ósea, siendo especialmente notable la aceleración en la velocidad de crecimiento, al iniciar el tratamiento. Se documenta igual crecimiento compensatorio en perímetro cefálico, pliegues cutáneos, estatura sentada y relación estatura/estatura sentada. Se observa una modificación en la las proporciones corporales y un desarrollo madurativo normal. Este crecimiento compensatorio se asoció a una mejoría en la predicción de la estatura adulta final