Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome

Legrand, Anne; Tréard, Cyrielle; Roncelin, Isabelle; Dreux, Sophie; Bertholet‐Thomas, Aurélia; Broux, Françoise; Daniele, Bruno; Decramer, Stéphane; Deschênes, Georges; Djeddi, D.; Guigonis, Vincent; Jay, Nadine; Khalifeh, Tackwa; Llanas, Brigitte; Morin, Denis; Morin, Gilles; Nobili, François; Piètrement, Christine; Ryckewaert, A.; Salomon, Rémi; Vrillon, Isabelle; Blanchard, Anne; Vargas‐Poussou, Rosa

doi:10.2215/cjn.05670517

Cited by 45 publications

(48 citation statements)

References 20 publications

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“…55 In a French cohort, MAGE-D2 mutations explained 9% of antenatal BS cases. 56 In the same cohort, severe polyhydramnios occurred in all pregnancies and most patients had a weight and/or length above the 90th percentile. Plasma chloride is higher in patients with MAGE-D2 mutations compared with other antenatal BS and, together with birth weight percentile, contribute to differentiate the transient form.…”

Section: Transient Antenatal Bsmentioning

confidence: 85%

Bartter syndrome: causes, diagnosis, and treatment

Cunha¹,

Heilberg²

2018

IJNRD

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Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle, resulting in salt wasting, hypokalemia, and metabolic alkalosis. Mutations of several genes encoding the transporters and channels involved in salt reabsorption in the thick ascending limb cause different types of Bartter syndrome. A poor phenotype–genotype relationship due to the interaction with other cotransporters and different degrees of compensation through alternative pathways is currently reported. However, phenotypic identification still remains the first step to guide the suspicion of Bartter syndrome. Given the rarity of the syndrome, and the lack of genetic characterization in most cases, limited clinical evidence for treatment is available and the therapy is based mainly on the comprehension of renal physiology and relies on the physician’s personal experiences. A better understanding of the mutated channels and transporters could possibly generate targets for specific treatment in the future, also encompassing drugs aiming to correct deficiencies in folding or plasma membrane expression of the mutated proteins.

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Section: Transient Antenatal Bsmentioning

confidence: 85%

Bartter syndrome: causes, diagnosis, and treatment

Cunha¹,

Heilberg²

2018

IJNRD

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“…In all babies that survived the neonatal period, BS was found to be transient. Interestingly, 2 of the reported patients were female: the severe phenotype could be explained by extremely skewed X-inactivation in 1 of them [43].…”

Section: New Insightsmentioning

confidence: 99%

Bartter and Gitelman syndromes: Questions of class

2019

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Bartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. They are caused by mutations in at least 7 genes involved in the reabsorption of sodium in the thick ascending limb (TAL) of the loop of Henle and/or the distal convoluted tubule (DCT). Different subtypes can be distinguished and various classifications have been proposed based on clinical symptoms and/or the underlying genetic cause. Yet, the clinical phenotype can show remarkable variability, leading to potential divergences between classifications. These problems mostly relate to uncertainties over the role of the basolateral chloride exit channel CLCNKB, expressed in both TAL and DCT and to what degree the closely related paralogue CLCNKA can compensate for the loss of CLCNKB function. Here, we review what is known about the physiology of the transport proteins involved in these disorders. We also review the various proposed classifications and explain why a gene-based classification constitutes a pragmatic solution.

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“…Recently, Legrant et al reported 17 additional cases, including two females with type 5 BS. They reported additional clinical characteristics in their cohort, such as the gestational age at onset varying between 18 and 27 weeks or kidney function remaining normal in those with this genotype …”

Section: Subtypes Of Bs/gsmentioning

confidence: 99%

Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy

Nozu

Yamamura

Horinouchi

et al. 2020

Pediatrics International

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Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively mild classic type, which is usually found during infancy with failure to thrive. GS can be clinically differentiated from BS by its age at onset, usually after school age, or laboratory findings of hypomagnesemia and hypocalciuria. Recent advances in molecular biology have shown that these diseases can be genetically classified into type 1 to 5 BS and GS. As a result, it has become clear that the clinical classification of antenatal/neonatal BS, classic BS, and GS does not always correspond to the clinical symptoms associated with the genotypes in a one-toone manner; and there is clinically no clear differential border between type 3 BS and GS. This has caused confusion among clinicians in the diagnosis of these diseases. It has been proposed that the disease name "inherited saltlosing tubulopathy" can be used for cases of tubulopathies accompanied by hypokalemia and metabolic alkalosis. It is reasonable to use this term prior to genetic typing into type 1-5 BS or GS, to avoid confusion in a clinical setting. In this article, we review causative genes and phenotypic correlations, diagnosis, and treatment strategies for salt-losing tubulopathy as well as the clinical characteristics of pseudo-BS/GS, which can also be called a "salt-losing disorder".

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Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome

Cited by 45 publications

References 20 publications

Bartter syndrome: causes, diagnosis, and treatment

Bartter syndrome: causes, diagnosis, and treatment

Bartter and Gitelman syndromes: Questions of class

Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy

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