Síndrome de Bartter: Una tubulopatía infrecuente de inicio antenatal
| Autor: | José M Novoa P, Carmen Luz Gómez de la F., Nury Caviedes R. |
|---|---|
| Jazyk: | Spanish; Castilian |
| Rok vydání: | 2019 |
| Předmět: |
Pediatrics
medicine.medical_specialty Polyhydramnios business.industry Bartter syndrome medicine.disease alcalosis metabólica hipokalémica tubulopatía 03 medical and health sciences Fetal polyuria 0302 clinical medicine Polyuria Tubulopathy 030225 pediatrics polihidroamnios Pediatrics Perinatology and Child Health Medicine Antenatal onset 030212 general & internal medicine Neonatology medicine.symptom Nephrocalcinosis business Síndrome de Bartter |
| Zdroj: | Revista chilena de pediatría v.90 n.4 2019 SciELO Chile CONICYT Chile instacron:CONICYT |
| Popis: | Introduction: Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later onset form during the first years of life (classic Bartter). In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. In the postnatal stage, it presents recurrent episodes of dehydration and electrolyte imbalance that can compromise the survival of the patient. Objective: To report a clinical case of neonatal BS and a review of the literature. Clinical Case: Premature newborn of 35 weeks of gestation with history of severe polyhydramnios diagnosed at 27 weeks of gestation, without apparent cause. From birth, the patient presented polyuria and hypokalemic metabolic alkalosis making a diagnosis of Neonatal Bartter Syndrome in the first week of life. Laboratory tests confirmed urinary electrolyte losses. The patient was treated with strict water balance and sodium and potassium supplementation, achieving weight and electrolyte imbalance stabilization. The patient remains in control in the nephrology unit, with potassium gluconate and sodium chloride supplementation. At the fourth month, ibuprofen was added as part of treatment. At the seventh month of life, renal ultrasound showed nephrocalcinosis. At one year of life, profound sensorineural hearing loss was observed requiring a cochlear implant. Conclusion: The presence of severe polyhydramnios of early onset with no identified cause should lead to suspicion of neonatal BS which even when infrequent determines severe hydroelectrolytic alterations and should be treated early. |
| Databáze: | OpenAIRE |
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