Bartter Syndrome (Syndrome, Bartter)

A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.

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Networked: 886 relevant articles (21 outcomes, 50 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hypercalciuria
2.	Dent Disease
3.	Nephrolithiasis
4.	Hypophosphatemia
5.	Gout

Experts

1.	Vargas-Poussou, Rosa: 14 articles (11/2022 - 08/2000)
2.	Seyberth, Hannsjörg W: 10 articles (01/2017 - 08/2000)
3.	Konrad, Martin: 9 articles (11/2022 - 08/2000)
4.	Deschênes, Georges: 8 articles (01/2019 - 08/2000)
5.	Demaretz, Sylvie: 7 articles (12/2021 - 08/2009)
6.	Kömhoff, Martin: 7 articles (12/2021 - 07/2002)
7.	Laghmani, Kamel: 7 articles (12/2021 - 08/2009)
8.	Tedeschi, Silvana: 7 articles (01/2020 - 12/2005)
9.	Lin, Shih-Hua: 7 articles (01/2017 - 05/2005)
10.	Waldegger, Siegfried: 7 articles (01/2008 - 06/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Bartter Syndrome:

1.	PotassiumIBA 01/01/2023 - "A detailed serum and urinary biochemistry analysis in the absence of other causes of potassium wasting helped diagnose Bartter syndrome, a rare entity in adults. " 08/01/2006 - "We report an infant with neonatal Bartter syndrome, who improved with potassium supplements." 01/01/2022 - "Bartter syndrome (BS) type II is a rare autosomal recessive renal tubular disorder caused by mutations in the KCNJ1 gene, which encodes the apical renal outer medullary potassium (ROMK) channel in the thick ascending limb (TAL) of Henle's loop. " 03/10/2021 - "He had been diagnosed with Bartter syndrome in his teens and had been taking potassium preparations since then. " 01/01/2017 - "Type II Bartter syndrome is caused by mutations in the renal outer medullary potassium (ROMK) channel, but the molecular mechanisms underlying this disease are poorly defined. "
2.	ChloridesIBA 01/01/2023 - "Type III Bartter syndrome (BS) is an autosomal recessive disease caused by mutations in the CLCNKB (chloride voltage-gated channel Kb) gene that encodes CLC-Kb. CLC-Kb is mainly located in the thick ascending limb of Henle's loop and regulates chloride efflux from tubular epithelial cells to the interstitium. " 01/01/2017 - "Mutations in the CLCNKB gene encoding the human voltage-gated chloride ClC-Kb (hClC-Kb) channel cause classic Bartter's syndrome (BS). " 12/18/2015 - "The loss-of-activation of truncated hClC-Kb channels in heterologous expression systems fully explains the reduced basolateral chloride conductance in affected kidneys and the clinical symptoms of Bartter syndrome patients. " 01/01/2014 - "Bartter syndrome is an autosomal recessive disease manifested by a defect in chloride transport in the thick loop of Henle, with different genetic origins and molecular pathophysiology. " 09/01/2011 - "Persistent watery diarrhoea with a high concentration of chloride in stool is the key finding in the differentiation of congenital chloride diarrhoea from Bartter syndrome. "
3.	ProstaglandinsIBA 12/01/1979 - "These studies suggest that a circulating inhibitor of platelet aggregation, probably of prostaglandin origin, is present in the plasma of patients with Bartter's syndrome." 02/01/1978 - "[Bartter's syndrome--studies on a patient with evidence for excessive prostaglandin synthesis (author's transl)]." 08/01/2004 - "Aspects to prostaglandin synthesis and receptor-mediated function within the kidney in patients suffering from hyperprostaglandin E syndrome/antenatal Bartter syndrome will be discussed." 09/01/2003 - "Primary Bartter syndrome is associated with endogenous increased levels of prostaglandins. " 09/01/2003 - "Pseudo-Bartter syndrome in a neonate on prostaglandin infusion."
4.	Furosemide (Lasix)FDA LinkGeneric 01/01/1987 - "Histological and ultrastructural studies of juxtaglomerular cells (JGC) were performed in a patient with pseudo-Bartter's syndrome due to furosemide abuse. " 04/01/1986 - "[A case of pseudo-Bartter's syndrome due to longterm ingestion of furosemide--studies of renal diluting and concentrating ability]." 12/01/1995 - "Concealed administration of frusemide simulating Bartter syndrome in a 4.5-year-old boy." 01/01/1992 - "Frusemide administration, 40 mg i.v., induced a brisk increase of urine flow (11.7-21.8 ml/min), UOsm (148-186 mOsm/kg H2O) and FENa (14.6-24%) in Bartter's syndrome, but not pseudo-Bartter's patients; in all pseudo-Bartter's patients frusemide-induced changes of UOsm (13-97) and FENa (-0.5 to 10.2) were markedly less than in Bartter's syndrome patients. " 08/20/1986 - "[Pseudo-Bartter's syndrome induced by surreptitious ingestion of furosemide to lose weight: a case report and possible pathophysiology]."
5.	CalciumIBA 01/01/1996 - "The results of this study indicate that the anomaly of intracellular calcium mobilization in patients with Bartter's syndrome arises from a defect at the postreceptor level. " 01/01/2020 - "The increased urinary calcium excretion made it confused to Bartter syndrome. " 01/01/2020 - "Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome." 04/01/2015 - "The Bartter syndrome was not severe while the serum calcium concentration was controlled, but during hypercalcemic periods, the symptoms of Bartter syndrome were aggravated. " 02/01/2010 - "A210V was almost as sensitive as the wild type to extracellular pH and calcium, whereas R351W removed extracellular calcium activation and markedly reduced alkaline pH activation of ClC-Kb. The three novel CLCNKB mutations we identified in two Chinese patients with classic Bartter syndrome have a role in altering the functional properties of ClC-Kb channels."
6.	Dinoprostone (PGE2)FDA Link 11/01/1985 - "We conclude that these preterm infants have a distinct variety of hypokalemic tubular disorders rather than a variant of Bartter syndrome, because renal and systemic hyperprostaglandinism ranks high in the pathogenic chain of events, and the suppression of PGE2 hyperactivity is associated with significant improvement in the development (and probably in the prognosis) of the affected children." 08/01/2005 - "Increased formation of prostaglandin E2 (PGE2) is a key part of hyperprostaglandin E syndrome/antenatal Bartter syndrome (HPS/aBS), a renal disease characterized by NaCl wasting, water loss, and hyperreninism. " 06/01/1995 - "The assessment of urinary excretion of prostaglandin E2 does not represent a diagnostic sine qua non in the context of familial Bartter's syndrome." 01/01/1986 - "It can be dissociated from pseudo-Bartter's syndrome because the urinary PGE2 excretion is always in the normal range in the pseudosyndrome. " 01/01/1986 - "Bartter's syndrome may be characterized as primary renal hyperprostaglandinism with high urinary PGE2 excretion. "
7.	DiureticsIBA 01/01/2006 - "These molecules provide a starting point for identification of diuretics or drugs useful in the treatment of Bartter's syndrome." 12/01/2022 - "So, a Pseudo Bartter Syndrome secondary to the diuretic abuse was evident. " 12/01/2022 - "This patient presented a series of metabolic disturbances secondary to the diuretic abuse, that mimicked the manifestations of hereditary tubulopathies like Bartter Syndrome. " 01/01/2021 - "Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report." 01/01/2021 - "The cases of pseudo-Bartter syndrome (BS)/GS because of diuretic abuse or other causes, which was determined based on patients' medical records, were excluded during registration. "
8.	Indomethacin (Indometacin)FDA LinkGeneric 04/01/1980 - "This study reports on the influence of indomethacin upon the renin--angiotensin system in three patients with Bartter's syndrome. " 09/01/1978 - "Balance studies and vascular reactivity studies were performed before and after indomethacin (200 mg/day) in a patient with well-documented Bartter's syndrome. " 01/01/2022 - "Based on a history of a previous pregnancy affected with Bartter syndrome, indomethacin was initiated. " 01/01/2022 - "Balancing Benefits and Risks of Indomethacin in the Management of Antenatal Bartter Syndrome: A Case Report." 03/01/2009 - "Indomethacin-induced colon perforation is uncommon in antenatal Bartter's syndrome. "
9.	ReninIBA 07/01/1990 - "In renal biopsies taken from a case of Bartter's syndrome and a case of pseudo-Bartter's syndrome, the number of renin-positive juxtaglomerular apparatus (JGA) and the number of renin-positive cells in each JGA were significantly greater than in five renal specimens from control autopsy cases. " 09/01/2010 - "The group of patients with antenatal Bartter syndrome had a lower renin ratio (P < 0.05) and a higher standard deviation score (SDS) for height (P < 0.05) than a previously studied group of patients with classical Bartter syndrome. " 05/01/1993 - "The authors describe a case of Bartter's syndrome, a variety of disease in the newborn, and they point out the most specific of the disease symptoms, that is the normal PA in presence of elevated plasma renin activity. " 02/01/1993 - "The normotensive patient clinically resembled Bartter syndrome but had some elements suggestive of a renin-secreting tumour, justifying surgical exploration and resection. " 12/01/1992 - "[Renin gene analysis of familial Bartter's syndrome]."
10.	SaltsIBA 02/01/1973 - "Studies on the site of renal salt loss in a patient with Bartter's syndrome." 09/26/2023 - "Bartter's syndrome (BS) is a rare group of hereditary salt losing tubulopathies due to impairment of renal transport mechanism. " 05/01/2023 - "Bartter's syndrome (BS) is a disorder caused by a group of rare mutations that result in defective salt reabsorption in the thick ascending loop of Henle. " 01/01/2023 - "Losing-salt tubulopathies, such as Bartter syndrome, are rare and usually inherited due to mutations of tubular reabsorption channels of the nephrons. " 01/01/2022 - "Bartter syndrome (BS) is a salt losing tubulopathy due to impairment of the transport mechanisms at the thick ascending limb of the Henle's loop. "

Therapies and Procedures

1.	Oral Administration 01/01/1984 - "In 2 adult patients with Bartter's syndrome, in whom chloride reabsorption at the diluting segment of the nephron was markedly reduced, serum potassium concentration could be improved with oral administration of a large amount of potassium chloride. "
2.	Therapeutics 03/26/2019 - "The aim of our study was to determine the prevalence of GHD in children with antenatal Bartter syndrome and to assess their response to GH therapy. " 01/01/2023 - "Genetic testing is recommended for accurate diagnosis of Bartter syndrome (BS) and serves as a basis for implementing specific target therapies. " 01/01/2022 - "This may explain, at least in part, the transient nature of Bartter syndrome caused by MAGED2 mutations and opens new avenues for therapy in these patients." 03/26/2019 - "GH therapy has a role in the treatment of growth failure in some individuals with Bartter syndrome." 11/01/2014 - "With appropriate therapy, catch-up growth was noted in d-RTA and Bartter syndrome. "
3.	Precision Medicine 01/01/2020 - "Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine."
4.	Kidney Transplantation 01/01/2011 - "Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis." 10/01/2000 - "A case of living-related kidney transplantation in Bartter's syndrome." 04/25/2000 - "Perioperative endocrinological findings in a patient with Bartter's syndrome and living-related renal transplantation." 06/01/1996 - "A first report: living related kidney transplantation on a patient with Bartter's syndrome." 10/01/1995 - "[Endocrinological analysis before and after living-related renal transplantation in a patient of Bartter's syndrome]."
5.	Aftercare (After-Treatment) 01/01/1987 - "Characteristic changes of the juxtaglomerular cells before and after treatment of pseudo-Bartter's syndrome due to furosemide abuse." 10/15/1977 - "Responses to antiotensin II antagonist before and after treatment with indomethacin in Bartter's syndrome." 09/01/1981 - "In children with Bartter's syndrome, the increased urinary excretion of PGE, PGFalpha and potassium when the natriuresis was either decreased or increased after treatment. " 10/01/1979 - "Effect of Sar1-ala8-angiotensin II on blood pressure and renin in Bartter's syndrome, before and after treatment with prostaglandin synthetase inhibitors." 09/01/1991 - "Intriguing changes in plasma prorenin have been reported after treatment with antihypertensive and other drugs, following various physiological stimuli, and in pathophysiological states such as Wilms' tumor, Bartter's syndrome, and diabetic nephropathy. "