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

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...

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Bibliographic Details
Published in:Birth defects research 2023-10, Vol.115 (17), p.1674-1679
Main Authors: Yaprak, Deniz, Kara, Hüdaverdi, Calisici, Erhan, Karagöl, Belma Saygılı, Altan, Mustafa
Format: Article
Language:English
Subjects:
Abnormalities
Aldosterone
Alkalosis
Bartter's syndrome
Biochemistry
Birth weight
Calcium
Cesarean section
Creatine
Dehydration
Diagnosis
Electrolytes
Emergency medical services
Endocrine disorders
Excretion
Fetuses
Genetic screening
Health services
Homeostasis
Hypercalciuria
Hypocalcemia
Indomethacin
Jaundice
Kidneys
Metabolism
Mutation
Neonates
Patients
Pediatrics
Polyuria
Renin
Salt
Salts
Seizures
Sodium
Urine
Weight loss
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Summary: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% (
ISSN:2472-1727
2472-1727
DOI:10.1002/bdr2.2235