Among BS cases, antenatal/neonatal BS (ABS) usually shows distinct polyhydramnios prenatally and presents features of BS in the early neonatal period. [casereports.bmj.com]

From birth, the patient presented polyuria and hypokalemic metabolic alkalosis making a diagnosis of Neonatal Bartter Syndrome in the first week of life. Laboratory tests confirmed urinary electrolyte losses. [scielo.conicyt.cl]

She presented normal muscle tone and no dysmorphia. Esophageal atresia was ruled out. She evolved with difficulty breathing with low oxygen re quirements. The patient presented early significant polyuria (7.1 ml/kg/h). [scielo.cl]

Antenatal BS is characterized by in utero or neonatal age of presentation, presence of nephrocalcinosis, higher urinary loss of sodium, potassium, and chloride. Classical BS presents at a later age and is milder in course. [indianjnephrol.org]

Polyuria, hyponatremia, hypokalemia, hyperaldosteronism, and hypercalciuria were initially present. [frontiersin.org]

• Short Stature

  Growth delays and growth retardation may be seen as affected children age, and final adult height may be shorter than would otherwise be expected (short stature). [rarediseases.org]

  Short stature/growth retardation Nearly all patients with Bartter syndrome have growth retardation. In a review of 66 patients, 62 had growth retardation, often severe (below the fifth percentile for age). [emedicine.medscape.com]

• Surgical Procedure

  Stressful situations can include surgical procedures, trauma, and the presence of another type of disease or infection (intercurrent disease). [rarediseases.org]

• Failure to Thrive

  Principal clinical features in most of them include early onset polyhydramnios, failure to thrive, prematurity, and nephrocalcinosis. [hindawi.com]

  Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). [medlineplus.gov]

  Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. [pubmed.ncbi.nlm.nih.gov]

  Affected infants may fail to grow and gain weight as would be expected based upon age and gender (failure to thrive). [rarediseases.org]

• Vomiting

  Additional symptoms that may occur include constipation, vomiting, elevated body temperature, lethargy, and a general feeling of poor health. [rarediseases.org]

  Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. [hindawi.com]

  Infants exhibit postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequent nephrocalcinosis [2]. Prenatal diagnosis is desirable to schedule appropriate management of the mother and newborn. [mdpi.com]

• Polydipsia

  Classic BS presents at a later age with failure to thrive, polyuria, polydipsia, salt craving, and dehydration. History of polyhydramnios and prematurity is absent. Urinary calcium is normal and nephrocalcinosis is usually absent. [indianjnephrol.org]

  Growth faltering, dwarfism, polydipsia, and weakness may be present in older children. Mild mental retardation is reported in few patients. [hindawi.com]

  Excessive thirst (polydipsia), excessive urination (polyuria), and the need to urinate at night (nocturia) may also occur. Despite excessive fluid intake, frequent urination can lead to dehydration. Some children may crave salt. [rarediseases.org]

  Classic Bartter syndrome occurs in infancy or early childhood and is characterized by salt wasting and hypokalemia, leading to polyuria, polydipsia, volume contraction, muscle weakness, growth retardation, and sometimes nephrocalcinosis (4). [cjasn.asnjournals.org]

• Hypertension

  Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension.2004; 43:1175-81. [revistas.unimilitar.edu.co]

  […] societies: American College of Physicians, American Society of Hypertension, American Society of Nephrology, International Society of Nephrology, Southern Society for Clinical Investigation Disclosure: Nothing to disclose. [emedicine.medscape.com]

  The use of indomethacin in the antenatal stage has been described for the management of polyhydramnios before 32 weeks of pregnancy, but its effects on ductal closure with postnatal pulmonary hypertension risk requiring strict monitoring should be considered20 [scielo.cl]

• Hypotension

  Angiotensin II (ANG II) is directly vasoconstrictive, increasing systemic and renal arteriolar constriction, which helps to prevent systemic hypotension. It directly increases proximal tubular sodium reabsorption. [emedicine.medscape.com]

• Polyuria

  Polyuria of type 3 ABS may be less severe than in other types of ABS. [casereports.bmj.com]

  In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. [scielo.conicyt.cl]

  The typical features include fetal polyuria, early onset maternal polyhydramnios, intrauterine growth restriction, preterm birth, postnatal polyuria, episodes of dehydration, recurrent vomiting, and failure to thrive [3, 4]. [hindawi.com]

  One fetus died whereas the two living infants had a Bartter-like syndrome, with substantial salt wasting and polyuria that resolved within a few weeks. [nature.com]

Clinical Testing and Workup Laboratory tests that are used to diagnose these disorders include blood tests to determine serum electrolyte levels, specifically potassium, chloride, bicarbonate, magnesium, renin, and aldosterone levels and urine tests to [rarediseases.org]

The study was exempt from institutional review board approval because, at the time of prenatal diagnosis, amniotic fluid sampling was part of the routine diagnostic workup. RESULTS Bartter groups are presented in Table 1. [nature.com]

The classification is as follows (see Etiology, Presentation, and Workup) [5] : Classic Bartter syndrome and Gitelman syndrome - The first type involves dysfunction in the thick ascending limb of the loop of Henle (TALH) or distal convoluted tubule (DCT [emedicine.medscape.com]

• Hyponatremia

  Appropriate fluid and electrolyte support was given to the patient to prevent hyponatremia, hypochloremia, hypokalemia, renal failure, and further weight loss. [indianjnephrol.org]

  Polyuria, hyponatremia, hypokalemia, hyperaldosteronism, and hypercalciuria were initially present. [frontiersin.org]

  Hyponatremia, hypokalemia, and elevation of plasma renin and aldosterone levels were observed in the newborn. In addition, the infant exhibited signs of polyuria. [mdpi.com]

Sodium chloride and potassium requirements were up to 35 and 4 meq/kg/day during treatment, respectively. [indianjnephrol.org]

Standard Therapies Treatment The treatment of the Bartter syndromes is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Caution in such treatment is required as treatment with potassium sparing diuretics may be dangerous in situations of gross salt and water wasting and circulatory volume contraction. Long-term prognosis is guarded. [hindawi.com]

We precisely suspected a diagnosis of antenatal Bartter syndrome, and the prenatal treatment was sufficient to prevent perinatal complications. 4. [mdpi.com]

E2 formation, although the safety of long-term treatment with NSAID use, especially in preterm infants, is a subject of controversy. [frontiersin.org]

Long-term prognosis is guarded. Lack of satisfactory control may lead to morbidity, growth failure, and renal insufficiency [2, 18, 23]. 8. Prognosis Untreated ABS patients may succumb to dehydration, dyselectrolytemia, and intercurrent infections. [hindawi.com]

This novel MAGED2 variant has an excellent prognosis, with spontaneous resolution of symptoms in early infancy without the need for lifelong medication or electrolyte replacement. [frontiersin.org]

In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS. Figures Figure 1 Pathophysiology of Bartter syndrome. [pubmed.ncbi.nlm.nih.gov]

The degree of disability depends on the severity of the receptor dysfunction, but the prognosis in many cases is good, with patients able to lead fairly normal lives. [emedicine.medscape.com]

An etiology of Bartter syndrome that is usually known as autosomal dominant hypocalcemia or autosomal dominant hypoparathyroidism has been described. [emedicine.medscape.com]

Twin pregnancies, fetal aneuploidy, oligohydramnios, fetal morphologic abnormalities, and cases with a clear etiology of polyhydramnios (duodenal atresia) were excluded. [nature.com]

Defective Gene Clinical Type Bartter type I NKCC2 Neonatal Bartter type II ROMK Neonatal Bartter type III CLCNKB Classic Bartter type IV BSND Neonatal with deafness Bartter type IVb CLCNKB and CLCNKA Neonatal with deafness Bartter type V CaSR Classic Epidemiology [emedicine.medscape.com]

Novel insights into the pathophysiology, as well as the recent identification of a novel genetic cause of aBS, merit an update on this topic. [ingentaconnect.com]

This review aims to illustrate the importance of these roles from a pathophysiological point of view by describing the interactions of the key proteins of this segment and by discussing how recently identified and long-known hereditary diseases affect [dumas.ccsd.cnrs.fr]

In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS. Figures Figure 1 Pathophysiology of Bartter syndrome. [pubmed.ncbi.nlm.nih.gov]

Riccardi D and Brown EM.Physiology and pathophysiology of the calcium-sensing receptor in the kidney. Am J Physiol Renal Physio. 2010;298:F485-F499. [revistas.unimilitar.edu.co]

Based on pathophysiology and genetics, BS can be classified as [Table 1],[Figure 1]: BS, antenatal, type I, involving defect in NaK 2Cl cotransporter in thick ascending limb (TAL) because of mutation in the SLC12A1 gene on the 15q15-21 chromosome. [4] [indianjnephrol.org]

Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. [pubmed.ncbi.nlm.nih.gov]

Appropriate fluid and electrolyte support was given to the patient to prevent hyponatremia, hypochloremia, hypokalemia, renal failure, and further weight loss. [indianjnephrol.org]

We precisely suspected a diagnosis of antenatal Bartter syndrome, and the prenatal treatment was sufficient to prevent perinatal complications. 4. [mdpi.com]

These drugs can prevent the secretion of aldosterone from the adrenal glands and counteract the effects of renin on the kidneys, thereby reducing potassium and acid loss. [rarediseases.org]