Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

Vergine, Gianluca; Fabbri, Elena; Pedini, Annalisa; Tedeschi, Silvana; Borsa, Niccolò

doi:10.1155/2018/9175271

Cited by 6 publications

(7 citation statements)

References 12 publications

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“…Nevertheless, some BS cases with NDI but no hypokalemia have been reported, suggesting the presence of an independent pathway as well. 47 BS IVa and BS IVb patients typically show severe phenotypes with growth retardation, poor response to NSAIDs, and sometimes, early onset of end-stage renal disease (ESRD). In some patients, a fall in glomerular filtration rate begins at a young age.…”

Section: Type Iva and Ivb Bsmentioning

confidence: 99%

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: Type Iva and Ivb Bsmentioning

confidence: 99%

Bartter syndrome: causes, diagnosis, and treatment

Cunha¹,

Heilberg²

2018

IJNRD

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“…In addition to higher GFR, polyuria results from disruption of the medullary osmotic gradient. Extreme free water loss could lead to an erroneous diagnosis of nephrogenic diabetes insipidus [ 56 ]. Impaired NKCC2 reduces the lumen-positive PD that is necessary for paracellular transport of Mg 2+ and Ca 2+ [ 27–29 , 57 ].…”

Section: Pathogenesis and Geno-phenotype Correlation In Bs And Gsmentioning

confidence: 99%

Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes

Bamgbola

Ahmed

2020

Clinical Kidney Journal

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The common finding of hypokalemic alkalosis in several unrelated disorders may confound the early diagnosis of salt-losing tubulopathy (SLT). Antenatal Bartter syndrome (BS) must be considered in idiopathic early-onset polyhydramnios. Fetal megabladder in BS may allow its distinction from third-trimester polyhydramnios that occurs in congenital chloride diarrhea (CCD). Fetal megacolon occurs in CCD while fecal chloride >90 mEq/L in infants is diagnostic. Failure-to-thrive, polydipsia and polyuria in early childhood are the hallmarks of classic BS. Unlike BS, there is low urinary chloride in hypokalemic alkalosis of intractable emesis and cystic fibrosis. Rarely, renal salt wasting may result from cystinosis, Dent disease, disorders of paracellular claudin-10b and Kir4.1 potassium-channel deficiency. Acquired BS may result from calcimimetic up-regulation of a calcium-sensing receptor or autoantibody inactivation of sodium chloride co-transporters in Sjögren syndrome. A relatively common event of heterozygous gene mutations for Gitelman syndrome increases the likelihood of its random occurrence in certain diseases of adult onset. Finally, diuretic abuse is the most common differential diagnosis of SLT. Unlike the persistent elevation in BS, urinary chloride concentration losses waxes and wanes on day-to-day assessment in patients with diuretic misuse.

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“…Urinary osmolality was obtained during hypernatremic episodes in three of the patients and ranged between 215 and 278 mOsm/kg, which was lower than measured or calculated plasma osmolality, consistent with a diagnosis of diabetes insipidus (DI). This finding has rarely been reported in ABS (Vergine et al, 2018). All patients were treated with indomethacin and salt (potassium and/or sodium) supplementations, as required.…”

Section: Clinical Characterizationmentioning

confidence: 78%

“…Although a urinary concentration defect and hyposthenuria is usually present in ABS, presumably because of disturbed medullary concentration gradients, persistent and significant hypernatremia is a very unusual finding. Only six type I ABS patients presenting clinical and laboratory findings consistent with nephrogenic diabetes insipidus (NDI) were documented thus far (Bettinelli et al, 2000;Bockenhauer et al, 2008;Vergine et al, 2018;Wongsaengsak et al, 2017). In some of the cases, the clinical presentation mimicked DI with later genetic diagnosis of underlying BS, whereas only a single case of type II BS with a ROMK mutation has been reported (Bockenhauer et al, 2010).…”

Section: Discussionmentioning

confidence: 99%

A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I

Halpérin

Dolgin

Geylis

et al. 2019

Annals of Human Genetics

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Four affected individuals of consanguineous kindred presented at infancy with an apparently autosomal recessive syndrome of polyuria and hypokalemic metabolic alkalosis, following maternal polyhydramnios and premature delivery, culminating in severe failure to thrive. Hypercalciuria, nephrocalcinosis, and hyperaldosteronism were further apparent as well as an unusual finding of intermittent hypernatremia. Additionally, all patients demonstrated variable micrognathia with upper respiratory airway abnormalities. As neither postnatal hyperkalemia nor permanent hearing deficits were shown, clinical assessment was consistent with antenatal Bartter syndrome (ABS) type I, which was never described before in the Israeli Bedouin population. Through genome‐wide linkage analysis, we identified a single ∼3.3 Mbp disease‐associated locus on chromosome 15q21.1, segregating within the pedigree. Whole‐exome sequencing revealed a single novel homozygous missense mutation within this locus, in SLC12A1, encoding the Na‐K‐Cl cotransporter, NKCC2, in accordance with the clinical diagnosis. In this concise study, we report a novel missense mutation within the SLC12A1 gene, causing a severe form of ABS type I, the first to be described in Israeli Bedouins, with unusual clinical features of hypernatremia caused by nephrogenic diabetes insipidus and putatively related micrognathia with upper airway abnormalities .

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Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

Cited by 6 publications

References 12 publications

Bartter syndrome: causes, diagnosis, and treatment

Bartter syndrome: causes, diagnosis, and treatment

Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes

A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I

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