Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants.

Adolescent Anti-Bacterial Agents Bartter Syndrome / complications Female Humans Infant, Newborn Polyhydramnios / diagnosis Pregnancy Solute Carrier Family 12, Member 1 / genetics
Bartter syndrome Intrauterine polyuria Neonatal sepsis Polyhydramnios SLC12A1

Journal

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
ISSN: 1769-664X
Titre abrégé: Arch Pediatr
Pays: France
ID NLM: 9421356

Informations de publication

Date de publication:
Oct 2022
Historique:
received: 17 03 2022
revised: 27 05 2022
accepted: 04 08 2022
pubmed: 5 9 2022
medline: 5 10 2022
entrez: 4 9 2022
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.arcped.2022.08.011 PMID: 36058813
pubmed: 36058813
pii: S0929-693X(22)00178-6
doi: 10.1016/j.arcped.2022.08.011
pii:
doi:

Substances chimiques

Anti-Bacterial Agents 0
SLC12A1 protein, human 0
Solute Carrier Family 12, Member 1 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

530-533

Informations de copyright

Copyright © 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest None

Auteurs

D 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.

S 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.

T Di Netta (T)

Department of Obstetrics and Gynecology, S. Eugenio Hospital, Rome, Italy.

F Zotta (F)

Department of Pediatric Subspecialties, Division of Nephrology, Bambino Gesù Children's Hospital - IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

G 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.

E 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.

S Rosignoli (S)

Department of Biochemical Sciences, Sapienza University of Rome, Rome, Italy.

B Bizzarri (B)

Neonatal Intensive Care Unit, S. Eugenio Hospital, Rome, Italy.

F Signore (F)

Department of Obstetrics and Gynecology, S. Eugenio Hospital, Rome, Italy.

P 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.

I Bottillo (I)

Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy. Electronic address: irene.bottillo@uniroma1.it.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Severe Bartter syndrome type 1: Prompt...
questionsmedicales.fr › Actions chimiques et utilisations › Actions pharmacologiques › Utilisations thérapeutiques › Anti-infectieux › Antibactériens › Severe Bartter syndrome type 1: Prompt...
questionsmedicales.fr › Maladies endocriniennes › Maladies des surrénales › Hypercorticisme › Hyperaldostéronisme › Syndrome de Bartter › Severe Bartter syndrome type 1: Prompt...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Severe Bartter syndrome type 1: Prompt...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Severe Bartter syndrome type 1: Prompt...
questionsmedicales.fr › Maladies urogénitales › Maladies de l'appareil urogénital féminin et complications de la grossesse › Complications de la grossesse › Polyhydramnios › Severe Bartter syndrome type 1: Prompt...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Severe Bartter syndrome type 1: Prompt...
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