Literature DB >> 25741940

Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review.

Itai Gross, Yael Siedner-Weintraub, Ari Simckes, David Gillis.   

Abstract

Antenatal type I Bartter syndrome (ABS) is usually identified by the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis caused by mutations in the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene. In this report, we describe a novel presentation of this syndrome with hypercalcemic hypercalciuric hyperparathyroidism, and review the literature of the variable atypical presentations of ABS.

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Year:  2015        PMID: 25741940     DOI: 10.1515/jpem-2014-0188

Source DB:  PubMed          Journal:  J Pediatr Endocrinol Metab        ISSN: 0334-018X            Impact factor:   1.634


  8 in total

1.  Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate.

Authors:  Ibtihal Siddiq Abdelgadir; Fawzia Elgharbawy; Khalil Mohamad Salameh; Baha Eldin Juma
Journal:  BMJ Case Rep       Date:  2017-11-14

2.  GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Authors:  Bin Guan; James M Welch; Julie C Sapp; Hua Ling; Yulong Li; Jennifer J Johnston; Electron Kebebew; Leslie G Biesecker; William F Simonds; Stephen J Marx; Sunita K Agarwal
Journal:  Am J Hum Genet       Date:  2016-10-13       Impact factor: 11.025

Review 3.  Hypercalcemia: a consultant's approach.

Authors:  Ari Auron; Uri S Alon
Journal:  Pediatr Nephrol       Date:  2017-09-06       Impact factor: 3.714

4.  Accentuated hyperparathyroidism in type II Bartter syndrome.

Authors:  Daniel Landau; Evgenia Gurevich; Levana Sinai-Treiman; Hannah Shalev
Journal:  Pediatr Nephrol       Date:  2016-02-08       Impact factor: 3.714

5.  Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.

Authors:  Dong Li; Lifeng Tian; Cuiping Hou; Cecilia E Kim; Hakon Hakonarson; Michael A Levine
Journal:  J Clin Endocrinol Metab       Date:  2016-03-10       Impact factor: 5.958

Review 6.  Role of Citrate in Pathophysiology and Medical Management of Bone Diseases.

Authors:  Donatella Granchi; Nicola Baldini; Fabio Massimo Ulivieri; Renata Caudarella
Journal:  Nutrients       Date:  2019-10-25       Impact factor: 5.717

Review 7.  Bartter's syndrome: clinical findings, genetic causes and therapeutic approach.

Authors:  Flavia Cristina Carvalho Mrad; Sílvia Bouissou Morais Soares; Luiz Alberto Wanderley de Menezes Silva; Pedro Versiani Dos Anjos Menezes; Ana Cristina Simões-E-Silva
Journal:  World J Pediatr       Date:  2020-06-01       Impact factor: 2.764

Review 8.  Hypercalcemic Disorders in Children.

Authors:  Victoria J Stokes; Morten F Nielsen; Fadil M Hannan; Rajesh V Thakker
Journal:  J Bone Miner Res       Date:  2017-11-02       Impact factor: 6.741

  8 in total

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