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Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants.
D'Angelantonio, D; Majore, S; Di Netta, T; Zotta, F; Parise, G; Savino, E; Rosignoli, S; Bizzarri, B; Signore, F; Grammatico, P; Bottillo, I.
Afiliación
  • D'Angelantonio D; Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
  • Majore S; Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
  • Di Netta T; Department of Obstetrics and Gynecology, S. Eugenio Hospital, Rome, Italy.
  • Zotta F; Department of Pediatric Subspecialties, Division of Nephrology, Bambino Gesù Children's Hospital - IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
  • Parise G; Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
  • Savino E; Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
  • Rosignoli S; Department of Biochemical Sciences, Sapienza University of Rome, Rome, Italy.
  • Bizzarri B; Neonatal Intensive Care Unit, S. Eugenio Hospital, Rome, Italy.
  • Signore F; Department of Obstetrics and Gynecology, S. Eugenio Hospital, Rome, Italy.
  • Grammatico P; Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
  • Bottillo I; Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy. Electronic address: irene.bottillo@uniroma1.it.
Arch Pediatr ; 29(7): 530-533, 2022 Oct.
Article en En | MEDLINE | ID: mdl-36058813
ABSTRACT
Bartter syndrome (BS) refers to a group of hereditary kidney disorders. One antenatal form is Bartter syndrome type 1 (BS1), caused by pathogenic variants in the SLC12A1 gene. We report a case of BS1 presenting with severe polyhydramnios. The fetus was found to carry three pathogenic variants of SLC12A1, leading to the antenatal diagnosis of BS1 and its prompt management. At age 18 days, clinical conditions were complicated by the onset of sepsis requiring supportive measures as well as steroid and antibiotic therapy. Any newborn with an antenatal history of polyhydramnios or postnatal polyuria should be suspected of having BS, since delayed diagnosis may lead to rapid renal failure.
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Bartter / Polihidramnios Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Idioma: En Revista: Arch Pediatr Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Bartter / Polihidramnios Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Idioma: En Revista: Arch Pediatr Año: 2022 Tipo del documento: Article