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.

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. - In: ARCHIVES DE PEDIATRIE. - ISSN 0929-693X. - 29:7(2022), pp. 530-533. [10.1016/j.arcped.2022.08.011]

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;Grammatico, P;Bottillo, I
2022

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.
2022
Bartter syndrome; Intrauterine polyuria; Neonatal sepsis; Polyhydramnios; SLC12A1
01 Pubblicazione su rivista::01a Articolo in rivista
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. - In: ARCHIVES DE PEDIATRIE. - ISSN 0929-693X. - 29:7(2022), pp. 530-533. [10.1016/j.arcped.2022.08.011]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1662673
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