Phenotype–genotype correlation in antenatal and neonatal variants of Bartter syndrome

Brochard, Karine; Boyer, Olivia; Blanchard, Anne; Loirat, Chantal; Niaudet, Patrick; Macher, Marie‐Alice; Deschenes, Georges; Bensman, A; Decramer, Stéphane; Cochat, Pierre; Morin, Denis; Broux, Françoise; Caillez, Mathilde; Guyot, C.; Novo, Robert; Jeunemaı̂tre, Xavier; Vargas‐Poussou, Rosa

doi:10.1093/ndt/gfn689

Cited by 141 publications

(163 citation statements)

References 44 publications

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“…Some equations performed better at low mGFR levels and others at high mGFR levels. Franco et al (28) reported superiority of the CystC-based Zappitelli equation over a PCr-based equation in 50 pediatric kidney transplant recipients, but these authors used the previous Schwartz equation established in 1976 (15,29).…”

Section: Discussionmentioning

confidence: 99%

Accuracy of Different Equations in Estimating GFR in Pediatric Kidney Transplant Recipients

Souza¹,

Cochat²,

Rabilloud³

et al. 2015

Clinical Journal of the American Society of Nephrology

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Background and objective The knowledge of renal function is crucial for the management of pediatric kidney transplant recipients. In this population, the most commonly used plasma creatinine (PCr)-based or cystatin C (CystC)-based GFR-predicting formulas may underperform (e.g., corticosteroids and trimethoprim may affect PCr concentration, whereas prednisone and calcineurin inhibitors may affect CystC concentration). This study evaluated the performance of six formulas in pediatric kidney transplant recipients.Design, setting, participants, & measurements The study used PCr-based formulas (bedside Schwartz, SchwartzLyon), CystC-based formulas (Hoek, Filler), and combined PCr-CystC-based formulas (CKD in Children [CKiD] 2012 and Zappitelli). The performance of these formulas was compared using inulin clearance as reference and assessed according to CKD stages in a historical cohort that included 73 pediatric kidney transplant recipients (199 measurements). The ability of the formulas to identify GFRs,60, ,75, and ,90 ml/min per 1.73 m 2 was assessed.Results At measured GFR (mGFR) $90 ml/min per 1.73 m 2 (nine patients; 23 measurements), the Zappitelli formula had the highest 30% accuracy (P30) (95% [95% confidence interval (95% CI), 87% to 100%]) and the bedside Schwartz had the highest 10% accuracy (P10) (56% [95% CI, 32% to 72%]). At mGFR$60 and ,90 ml/min per 1.73 m 2 (22 patients; 91 measurements), all formulas had P30 values .80%. However, only the CKiD 2012 formula had a P10 value .50%. At mGFR,60 ml/min per 1.73 m 2 (42 patients; 85 measurements), the CKiD 2012 and Schwartz-Lyon formulas had the highest P10 (45% [95% CI, 34% to 55%] and 43% [95% CI, 33% to 54%]) and P30 (90% [95% CI, 84% to 97%] and 91% [95% CI, 86% to 98%]). All studied equations except Hoek and Filler had areas under the receiver-operating characteristic curves significantly .90% in discriminating patients with renal dysfunction at various CKD stages (GFR,60, ,75, and ,90 ml/min per 1.73 m 2 ).Conclusions In pediatric kidney transplant recipients, the CKiD 2012 formula had the best performance at mGFRs,90 ml/min per 1.73 m 2 . CystC-based formulas were not superior to PCr-based formulas.

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Section: Discussionmentioning

confidence: 99%

Accuracy of Different Equations in Estimating GFR in Pediatric Kidney Transplant Recipients

Souza¹,

Cochat²,

Rabilloud³

et al. 2015

Clinical Journal of the American Society of Nephrology

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“…Mutation screening consisted of direct sequencing of the SLC12A1, KCNJ1, and CLCNKB genes as described elsewhere (9,11). In the group without mutation, no genetic screening was performed for patient 7 (parental refusal).…”

Section: Methodsmentioning

confidence: 99%

“…Antenatal Bartter syndrome is frequently caused by mutations in the sodium-potassiumchloride cotransporter encoded by the SLC12A1 [solute carrier family 12 (sodium/potassium/chloride transporters, member 1, or NKCC2)] gene or in the potassium channel Kir 1.1 (or ROMK) encoded by the KCNJ1 (potassium inwardly rectifying channel, subfamily J, member 1, alias Kir1.1, or ROMK1) gene. Bartter syndrome with deafness is caused by mutations in the subunit of ClC-Kb and ClC-Ka channels (barttin) encoded by BSND (Bartter syndrome with sensorineural deafness, alias BART) gene (11). Classical forms (12) are caused by mutations in the chloride channel ClC-Kb encoded by the CLCNKB (chloride channel Kb, alias hClC-K) gene.…”

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confidence: 99%

Bartter Syndrome Prenatal Diagnosis Based on Amniotic Fluid Biochemical Analysis

et al. 2010

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ABSTRACT:Bartter syndrome is an autosomic recessive disease characterized by severe polyuria and sodium renal loss. The responsible genes encode proteins involved in electrolyte tubular reabsorption. Prenatal manifestations, mainly recurrent polyhydramnios because of fetal polyuria, lead to premature delivery. After birth, polyuria leads to life-threatening dehydration. Prenatal genetic diagnosis needs an index case. The aim of this study was to analyze amniotic fluid biochemistry for the prediction of Bartter syndrome. We retrospectively studied 16 amniotic fluids of Bartter syndromeaffected fetuses diagnosed after birth, only six of them being genetically proven. We assayed total proteins, alpha-fetoprotein, and electrolytes and defined a Bartter index corresponding to the multiplication of total protein and of alpha-fetoprotein. Results were compared with two control groups matched for gestational age-nonBartter polyhydramnios (n ϭ 30) and nonpolyhydramnios (n ϭ 60). In Bartter syndrome, we observed significant differences (p Ͻ 0.0001) for protein amniotic fluid levels when compared with the two control groups (1.55 g/L, 3.9 g/L, and 5.2 g/L, respectively) and low Bartter index (0.16, 0.82, and 1.0, respectively). No statistical difference was observed for electrolytes. In conclusion, Bartter syndrome can be prenatally suspected on amniotic fluid biochemistry (sensitivity 93% and specificity 100%), allowing appropriate management before and after birth. (Pediatr Res 67: 300-303, 2010)

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“…Gitelman's syndrome usually manifests itself in adults, and patients can sustain normal life with excellent long-term prognosis (Cruz et al 2001;Knoers 2006;Knoers and Levtchenko 2008). A few cases of chronic renal failure were reported in patients with Bartter's syndrome (Birkenhager et al 2001;Jeck et al 2001;Brochard et al 2009), but in case of Gitelman's syndrome the renal function is usually maintained despite long-standing hypokalemia, renin-angiotensin activation, and low blood pressure. There are only two cases of chronic renal failure associated with Gitelman's syndrome reported in international literature (Bonfante et al 2001;Calo et al 2003).…”

Section: Introductionmentioning

confidence: 99%

Gitelman’s Syndrome with Vomiting Manifested by Severe Metabolic Alkalosis and Progressive Renal Insufficiency

Lee

Han

2013

Tohoku J. Exp. Med.

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Gitelman's syndrome is an autosomal recessive salt-losing tubulopathy showing hypokalemic hypomagnesemic hypocalciuria with metabolic alkalosis and hyperreninemic hyperaldosteronism. This syndrome is caused by mutations in the SLC12A3 gene that encodes sodium-chloride cotransporter expressed at the apical membrane of renal distal convoluted tubule. Symptoms and renal outcomes of Gitelman's syndrome are, in general, mild and benign, and renal insufficiency from Gitelman's syndrome associated with long-standing hypokalemia and volume depletion is extremely rare. Herein, we report a 27-year-old male patient with Gitelman's syndrome who manifested renal failure, hypokalemia, severe metabolic alkalosis and altered mentality. About one year ago, the patient had been transferred to Seoul National University Hospital, because of unsolved hypokalemia, and was diagnosed as Gitelman's syndrome by clinical features and genetic analysis of the SLC12A3 gene. The patient carries a missense mutation at one allele of SLC12A3 gene (c.781C>T, p.Arg261Cys). His mother is also heterozygous for the same mutation and she had a history of hypokalemia. On this admission, the patient had recurrent bouts of vomiting induced by psychiatric eating disorder and showed severe volume depletion with hypotension, azotemia and metabolic alkalosis. Intense hydration therapy and emergency hemodialysis transiently improved his fluid-electrolyte imbalance and renal function. However, renal dysfunction progressively deteriorated despite the medical treatment. Our findings suggest that even in Gitelman's syndrome, constant monitoring for volume status and other comorbid conditions should be employed to prevent progressive renal injury.

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Phenotype–genotype correlation in antenatal and neonatal variants of Bartter syndrome

Cited by 141 publications

References 44 publications

Accuracy of Different Equations in Estimating GFR in Pediatric Kidney Transplant Recipients

Accuracy of Different Equations in Estimating GFR in Pediatric Kidney Transplant Recipients

Bartter Syndrome Prenatal Diagnosis Based on Amniotic Fluid Biochemical Analysis

Gitelman’s Syndrome with Vomiting Manifested by Severe Metabolic Alkalosis and Progressive Renal Insufficiency

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