Genetic basis of Bartter syndrome in Korea

Lee, Beom Hee; Cho, Hee Yeon; Lee, Hyun-Kyung; Han, Kyoung Hee; Kang, Hee Gyung; Ha, Il Soo; Lee, Joo Hoon; Park, Young-Seo; Shin, Jae Il; Lee, Dae Yeol; Kim, Su Yung; Choi, Yong; Cheong, Hae Il

doi:10.1093/ndt/gfr475

Cited by 47 publications

(66 citation statements)

References 35 publications

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“…5,21 By contrast, the clinical manifestations of type III BS and GS may vary and resemble each other. 7,[11][12][13] Furthermore, p-BS/GS is difficult to distinguish from type III BS or GS because its clinical features match those of the latter two diseases. Correctly distinguishing these three diseases based on their clinical characteristics is thus important.…”

Section: Discussionmentioning

confidence: 99%

“…Some cases of type III BS were previously reported to show features similar to those of GS, including hypomagnesemia and hypocalciuria. 7,[11][12][13] In addition, one report published in 2003 showed that, in a large consanguineous family, both the BS and GS phenotypes were present with the same CLCNKB mutation. 13 In the same year a review article pointed out the phenotypic overlaps between type III BS and GS.…”

Section: Discussionmentioning

confidence: 99%

“…For example, some patients with type III BS may show clinical features of GS, including hypomagnesemia and hypocalciuria, and diuretic tests may fail to differentiate between them. 7,[11][12][13] Moreover, mutations in known disease-related genes have not been identified in some patients with clinically diagnosed BS/GS. This suggests that some acquired conditions may cause a BS/GS-like disorder, or pseudo-BS/GS (p-BS/GS), associated with loss of sodium or chloride in the urine, stool, or vomitus or with chloride-intake deficiency, resulting in clinical symptoms identical to those of BS/GS.…”

Section: Introductionmentioning

confidence: 99%

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Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics

Matsunoshita

Nozu

Shono

et al. 2016

Genetics in Medicine

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Purpose: Phenotypic overlap exists among type III Bartter syndrome (BS), Gitelman syndrome (GS), and pseudo-BS/GS (p-BS/ GS), which are clinically difficult to distinguish. We aimed to clarify the differences between these diseases, allowing accurate diagnosis based on their clinical features. Methods:A total of 163 patients with genetically defined type III BS (n = 30), GS (n = 90), and p-BS/GS (n = 43) were included. Age at diagnosis, sex, body mass index, estimated glomerular filtration rate, and serum and urine electrolyte concentrations were determined. Results:Patients with p-BS/GS were significantly older at diagnosis than those with type III BS and GS. Patients with p-BS/GS included a significantly higher percentage of women and had a lower body mass index and estimated glomerular filtration rate than did patients with GS. Although hypomagnesemia and hypocalciuria were predominant biochemical findings in patients with GS, 17 and 23% of patients with type III BS and p-BS/GS, respectively, also showed these abnormalities. Of patients with type III BS, GS, and p-BS/GS, 40, 12, and 63%, respectively, presented with chronic kidney disease.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics

Matsunoshita

Nozu

Shono

et al. 2016

Genetics in Medicine

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“…(6). Olgumuzda KCNJ1 gen dizi analizinde hastalığa neden olan mutasyon saptanmazken; SLC12A1 gen dizi analizine bakılamadı.…”

Section: Discussionunclassified

“…Neonatal BS amniyon sıvısında klor yüksekliğiyle beraber açıklanamayan polihidramniyoz ve prematür doğum öyküsü, poliüri, tuz kaybı ve ciddi dehidratasyonla karakterize ağır bir hastalık olup; 1,2/100,000 sıklıkta görülmektedir (1)(2)(3)(4)(5). Neonatal BS, Henle kulpunun çıkan kalın kolundaki tübüler epitelyum hücrelerinde eksprese olan SLC12A1 ve KCNJ1 genlerindeki mutasyonlar sonucu gelişmektedir (6). Tedavi elektrolit imbalansı ve dehidratasyonun düzeltilmesi, prostaglandin sentetaz inhibitörlerinin kullanılmasından ibarettir.…”

Section: Introductionunclassified

Neonatal Bartter Sendromu: Bir Yenidoğan Olgusu

Özdemir¹,

Küçüktaşçi²,

Özdemir³

et al. 2014

jpr

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ABS TRACTNeonatal Bartter syndrome (BS) is an inherited renal tubular disorder characterized with normal blood pressure, hypokalemia, hypochloremic metabolic alkalosis, hyperreninemia and increased urinary loss of sodium, potassium and chloride. In this disorder complications such as severe dehydration episodes, recurrent vomiting, hypercalciuria, and subsequently nephrocalcinosis, growth and development retardations. Herein, we reported a premature infant with neonatal BS, who successfully treated by oral indomethacin and potassium supplements without any complications.

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A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate

Yaprak,

Kara,

Calisici

et al. 2023

Birth Defects Research

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BackgroundBartter syndrome (BS) is a rare congenital salt‐losing renal tubular transport disorder, characterized by salt wasting, polyuria, biochemical abnormalities, and acid–base homeostasis imbalance. The syndrome has five different genetic forms, and novel mutations of CLCNKB gene lead to type 3 BS also known as classic BS. In this case, we report clinical and molecular findings from a newborn baby with BS.CaseA 10‐day‐old male infant born at 37 weeks of gestation by cesarean section following a pregnancy complicated with polyhydramnios, and fetal distress to a 30‐year‐old gravida 3, para 3 mother, with a 2500 g birth weight was brought to the pediatric emergency department due to weight loss and jaundice. The neonate was referred to the neonatal intensive care unit (NICU) with a preliminary diagnosis of hyponatremic dehydration (Na: 122 mmol/L, 10% dehydration) and hypokalemic hypochloremic metabolic alkalosis (K: 2.13 mmol/L, Cl: 63 mmol/L, pH: 7.62, pCO2: 39 mmHg, HCO3: 40.8 mmol/L, BE: 16.9 mmol/L), and hypocalcemia (ionized Ca: 0.72 mmol/L). On arrival to the NICU, symptomatic focal seizures, and polyuria complicated his course. Spot urine biochemistry revealed a renal salt wasting and hypercalciuria: Creatine 11.4 mg/dL Na: 51 mmol/L (54–150), K: 26 mmol/L (20–80), Cl: 164 mmol/L, fractional excretion of sodium (FENa): 3% (0.9–1.6), fractional excretion of chloride (FECl): 17% (<0.5%) and Ca/Cr: 0.33 (<0.2). Biochemical abnormalities disappeared through intravenous fluid and electrolyte therapy, but he could not achieve adequate weight gain, and polyuric urine output (6.5 cc/kg/h), and metabolic alkalosis continued as the enteral feedings advance. Patient's serum renin: 184 pg/mL (5–27 pg/mL) and aldosterone: 1670 pg/mL (1–180 ng/dL) were elevated. Polyuria, renal salt wasting, electrolyte and acid–base disturbances, and hyperreninemic hyperaldosteronism established the diagnosis as Bartter syndrome. An oral indomethacin (1 mg/kg/day) treatment, on the 8th day. ensured the weight gain, and normalized daily urine output. He achieved the goal of birth weight on the 30th day and he was 3520 g weight at discharge on day 42. The genetic tests of the patient as KCNJ1 SLC12A1 gene sequence analysis revealed a novel homozygous mutation in the 14th exon of the CLCNKB gene, the c.1334_1338del CTTTT (p. Ser445fs*4) variant was identified.DiscussionThe diagnosis of BS should be considered in the presence of a medical history of severe polyhydramnios of fetal origin. Postnatally, polyuria, signs of dehydration, renal salt wasting, and hypokalemic‐metabolic alkalosis should prompt the clinician to request genetic testing for BS in the neonatal period. This case is presented to emphasize that early diagnosis of BS should be considered in newborns presenting with electrolyte abnormalities and metabolic alkalosis accompanying dehydration and favorable growth results can be achieved by starting indomethacin treatment in the early neonatal period. The clinical exome sequencing illustrated a novel missense variant in the CLCNKB gene leading to the molecular diagnosis of BS type 3.

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Genetic basis of Bartter syndrome in Korea

Cited by 47 publications

References 35 publications

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics

Neonatal Bartter Sendromu: Bir Yenidoğan Olgusu

A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate

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