Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. 1962.

Bartter, Frederic C.; Pronove, Pacita; Gill, John R.; MacCardle, Ross C.

doi:10.1681/asn.v93516

Cited by 45 publications

(4 citation statements)

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“…Moreover, they are positive for PDGFR-β, the common marker of renal interstitial cells and pericytes. Transformation of extraglomerular mesangial cells to renin-producing cells is often observed in situations of chronic salt wasting, for example, due to genetic defects in the aldosterone synthase or in chloride channels, as in Bartter syndrome [ 2 , 30 , 62 , 108 ]. After transformation into renin-producers, EGM cells start to express Akr1b7 [ 54 ].…”

Section: Cells Reversibly Recruited For Renin Productionmentioning

confidence: 99%

Flexible and multifaceted: the plasticity of renin-expressing cells

Broeker

Schrankl

Fuchs

et al. 2022

Pflugers Arch - Eur J Physiol

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The protease renin, the key enzyme of the renin–angiotensin–aldosterone system, is mainly produced and secreted by juxtaglomerular cells in the kidney, which are located in the walls of the afferent arterioles at their entrance into the glomeruli. When the body’s demand for renin rises, the renin production capacity of the kidneys commonly increases by induction of renin expression in vascular smooth muscle cells and in extraglomerular mesangial cells. These cells undergo a reversible metaplastic cellular transformation in order to produce renin. Juxtaglomerular cells of the renin lineage have also been described to migrate into the glomerulus and differentiate into podocytes, epithelial cells or mesangial cells to restore damaged cells in states of glomerular disease. More recently, it could be shown that renin cells can also undergo an endocrine and metaplastic switch to erythropoietin-producing cells. This review aims to describe the high degree of plasticity of renin-producing cells of the kidneys and to analyze the underlying mechanisms.

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Section: Cells Reversibly Recruited For Renin Productionmentioning

confidence: 99%

Flexible and multifaceted: the plasticity of renin-expressing cells

Broeker

Schrankl

Fuchs

et al. 2022

Pflugers Arch - Eur J Physiol

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“…The syndrome, first described by Bartter et al in 1962 (Bartter et al, 1998), has five different genetic forms (Kleta & Bockenhauer, 2018). Causative genes are directly involved in salt reabsorption in the thick ascending limb of the nephron (BS1‐4) or regulating their expression (BS5).…”

Section: Introductionmentioning

confidence: 99%

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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“…In the sixties of the last century, Bartter et al [ 1 ] and Gitelman et al [ 2 ] independently observed different cases of patients with electrolyte imbalances, metabolic alkalosis, and salt wasting. These subjects had activation of the renin-angiotensin-aldosterone system (RAAS) and excess of mineralocorticoids yet were normotensive or even had hypotension.…”

Section: Introductionmentioning

confidence: 99%

Gitelman’s and Bartter’s Syndromes: From Genetics to the Molecular Basis of Hypertension and More

Ravarotto¹,

Bertoldi²,

Stefanelli³

et al. 2022

Kidney Blood Press Res

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Background: Gitelman’s and Bartter’s syndromes (GS/BS) are rare genetic tubulopathies characterized by electrolyte imbalance and activation of the renin angiotensin aldosterone system (RAAS). These syndromes have intriguing biochemical and hormonal abnormalities that leads them to be protected from hypertension, cardiovascular and renal remodeling. Summary: In this review we explore the biochemical/molecular mechanisms induced by the activation of the RAAS and its counterregulatory arm which is particularly activated in GS/BS patients, in the context of blood pressure regulation. In addition, we report our findings in the context of COVID-19 pandemic where we observed GS/BS subjects being protected from infection. Key Messages: The intracellular pathways induced by Ang II starting from induction of oxidative stress and vasoconstriction, are crucial for the progression toward cardiovascular-renal remodeling and might be useful targets in order to reduce/halt the progression of Ang II/oxidative stress-induced cardiovascular-renal morbidity in several diseases.

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Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. 1962.

Cited by 45 publications

References 0 publications

Flexible and multifaceted: the plasticity of renin-expressing cells

Flexible and multifaceted: the plasticity of renin-expressing cells

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

Gitelman’s and Bartter’s Syndromes: From Genetics to the Molecular Basis of Hypertension and More

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