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Gullner Syndrome

Presentation

Long-standing cases may present with elevated blood pressures. [statpearls.com]

Adults can present with chondrocalcinosis with swollen and warm joints with overlying tenderness. [wikidoc.org]

[…] diuretics, given that the affected transporter is the exact target of thiazides,[6] (unlike in Bartter syndrome, in which patients present as though on loop diuretics). [en.wikipedia.org]

Entire Body System

  • Weakness

    Bartter Syndrome: Characterized by failure to thrive, growth deficiency, dwarfism, muscle weakness and cramps, and hypokalemia as a result of a renal potassium wasting syndrome. Mental retardation has been observed in some patients. [accessanesthesiology.mhmedical.com]

    Individuals affected by Gitelman syndrome often complain of severe muscle cramps or weakness, numbness, thirst, waking up at night to urinate, salt cravings, abnormal sensations, chondrocalcinosis, or weakness expressed as extreme fatigue or irritability [en.wikipedia.org]

  • Fatigue

    From HPO Fatigue MedGen UID: 41971 •Concept ID: C0015672 • Sign or Symptom A subjective feeling of tiredness characterized by a lack of energy and motivation. [ncbi.nlm.nih.gov]

    Fatigue and muscle cramps are the main features; they are associated with nausea and intermittent vomiting. [accessanesthesiology.mhmedical.com]

    Individuals affected by Gitelman syndrome often complain of severe muscle cramps or weakness, numbness, thirst, waking up at night to urinate, salt cravings, abnormal sensations, chondrocalcinosis, or weakness expressed as extreme fatigue or irritability [en.wikipedia.org]

  • Asymptomatic

    The symptomatic features of this syndrome are highly variable ranging from asymptomatic to mild manifestations (weakness, cramps) to severe symptoms (tetany, paralysis, rhabdomyolysis).[13] Symptom severity is multi-factorial, with phenotypic expression [en.wikipedia.org]

Gastrointestinal

  • Vomiting

    Nausea MedGen UID: 10196 •Concept ID: C0027497 • Sign or Symptom A sensation of unease in the stomach together with an urge to vomit. [ncbi.nlm.nih.gov]

    A family history of nephrocalcinosis and detailed personal history ruling out the possibility of surreptitious vomiting and diuretic abuse should be practiced before making the diagnosis. [statpearls.com]

    A diuretic screen is warranted.[9] Cyclical vomiting In the case of cyclical vomiting for a variety of reasons, urine chloride concentration differs from that of Bartter syndrome. [wikidoc.org]

    After delivery, it is typical to have fever, sensorineural deafness, severe polyuria, vomiting, and diarrhea, which can lead to dehydration. [icloudhospital.com]

    Fatigue and muscle cramps are the main features; they are associated with nausea and intermittent vomiting. [accessanesthesiology.mhmedical.com]

  • Salt Craving

    [2] Though cravings for salt are most common and severe, cravings for sour foods (e.g. vinegar, lemons, and sour figs) have been noted in some persons affected.[7] More severe symptoms such as seizures, tetany, and paralysis have been reported.[2] Abnormal [en.wikipedia.org]

  • Nausea

    Nausea MedGen UID: 10196 •Concept ID: C0027497 • Sign or Symptom A sensation of unease in the stomach together with an urge to vomit. [ncbi.nlm.nih.gov]

    Fatigue and muscle cramps are the main features; they are associated with nausea and intermittent vomiting. [accessanesthesiology.mhmedical.com]

Cardiovascular

  • Hypertension

    Besides, some genetic disorders (Glucocorticoid-remediable hypertension, Bartter syndrome, Gitelman syndrome, Liddle syndrome, Gullner syndrome, Glucocorticoid receptor deficiency etc.) are connected with hypokalemia. [mdpi.com]

    Human hypertension caused by mutations in the kidney isozyme of 11β-hydroxysteroid dehydrogenase. Nature Genet. 10, 394–399 (1995). Article CAS Google Scholar Bartter, E.C. et al. [nature.com]

    […] and/or hypertensive end-organ damage. [emedicine.medscape.com]

    Google Scholar Güllner HG, Kafka MS, Gill JR (1982) Cyclic AMP (cAMP) production by platelets is defective in patients with Bartter's syndrome (BS). 64th Ann Meet Endocrine Soc [Abstr 1374] Download references Author information Authors and Affiliations Hypertension-Endocrine [link.springer.com]

  • Low to Normal Blood Pressure

    […] by Gitelman syndrome generally have low or normal blood pressure. [en.wikipedia.org]

Neurologic

  • Seizure

    […] or weakness expressed as extreme fatigue or irritability.[2] Though cravings for salt are most common and severe, cravings for sour foods (e.g. vinegar, lemons, and sour figs) have been noted in some persons affected.[7] More severe symptoms such as seizures [en.wikipedia.org]

Workup

Urine

  • Hypocalciuria

    − Gitelman syndrome Other names Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria A model of transport mechanisms in the distal convoluted tubule. [en.wikipedia.org]

Treatment

The condition is not curable (except type 6) and supportive treatment is required lifelong. Conventional treatment of Bartter syndrome includes maintaining fluid and electrolyte balance and indomethacin to prevent the production of prostaglandin 2. [jpgo.org]

Kidney Int. 1981; 19: 86-102 PubMed Crossref Google Scholar Solomon RJ Brown RS Bartter's syndrome. in: New insights into pathogenesis and treatment. ed 4. [ajkd.org]

Overall prognosis depends on the extent of receptor malfunction, and despite these facts, most patients can lead normal lives with strict compliance with their treatment plan. [statpearls.com]

Abstract The effect of magnesium treatment on serum potassium and potassium balance was examined in three siblings with a recently described syndrome of hypokalemic alkalosis with renal tubulopathy. [amjmed.com]

Treatment of hypertension with diuretics without due attention to potassium homeostasis exacerbates the development of end-organ damage by fueling the metabolic abnormalities. [emedicine.medscape.com]

Prognosis

Patients with classic Bartter Syndrome have an excellent prognosis if electrolyte abnormalities are treated early. [icloudhospital.com]

Guillain–Barré syndrome: pathogenesis, diagnosis, treatment and prognosis. Nature Reviews Neurology, vol 10. doi:10.1038/nrneurol.2014.121. Available online at http://www.nature.com/nrneurol/journal/v10/n8/full/nrneurol.2014.121.html. [labtestsonline.it]

Overall prognosis depends on the extent of receptor malfunction, and despite these facts, most patients can lead normal lives with strict compliance with their treatment plan. [statpearls.com]

[…] syndrome Bartter syndrome Microchapters Home Patient Information Overview Historical Perspective Pathophysiology Causes Differentiating Bartter syndrome from other Diseases Epidemiology and Demographics Risk Factors Natural History, Complications and Prognosis [wikidoc.org]

Etiology

Etiology Impairment in the sodium-potassium-chloride cotransporter (NKCC2) or the potassium channel (ROMK) affect the transport of sodium, potassium, and chloride in the thick ascending limb of the loop of Henle (TALH). [statpearls.com]

COVID-19 There is a high prevalence of hypokalemia in patients with severe COVID-19 disease. [9, 10] A definitive cause has not yet been determined and there are likely multiple etiologic factors involved. [11] One leading theory posits that COVID-19 [emedicine.medscape.com]

Etiology Impaired sodium-potassium-chloride cotransporter (NKCC2) or potassium channel (ROMK) transport affects sodium, potassium, and chloride transit in the thick ascending limb of the loop of Henle (TALH). [icloudhospital.com]

Epidemiology

Epidemiology Bartter syndrome is seen in 1 in 1,000,000 individuals and is much less common than Gitelman syndrome. [statpearls.com]

Intensive Care Med 29: 103–110 Article PubMed Google Scholar Bellani G, Laffey JG, Pham T, Fan E, Brochard L, Esteban A, Gattinoni L, van Haren F, Larsson A, McAuley DF, Ranieri M, Rubenfeld G, Thompson BT, Wrigge H, Slutsky AS, Pesenti A, (2016) Epidemiology [link.springer.com]

Intensive Care Med 29: 103–110 [CrossRef] [PubMed] [Google Scholar] Bellani G, Laffey JG, Pham T, Fan E, Brochard L, Esteban A, Gattinoni L, van Haren F, Larsson A, McAuley DF, Ranieri M, Rubenfeld G, Thompson BT, Wrigge H, Slutsky AS, Pesenti A, (2016) Epidemiology [rea.revuesonline.com]

[…] promoted in the prevention of dysrhythmias and monitoring of QT interval activity.[13] Medications that extend or prolong the QT interval (macrolides, antihistamines, beta-2 agonists) should be avoided in these patients to prevent cardiac death.[3] Epidemiology [en.wikipedia.org]

Pathophysiology

Kidney Int. 1981; 19: 86-102 Scopus (50) PubMed Crossref Google Scholar Kurtzman NA Gutierrez LF The pathophysiology of Bartter syndrome. [ajkd.org]

Main article: Bartter syndrome Bartter syndrome Microchapters Home Patient Information Overview Historical Perspective Pathophysiology Causes Differentiating Bartter syndrome from other Diseases Epidemiology and Demographics Risk Factors Natural History [wikidoc.org]

Pathophysiology Bartter syndrome is a renal tubular salt-wasting disorder in which the kidneys cannot reabsorb sodium and chloride in the thick ascending limb of the loop of Henle. [statpearls.com]

Crit Care Med 33: S228–S240 Article PubMed Google Scholar Rocco PRM, Dos Santos C, Pelosi P, (2012) Pathophysiology of ventilator-associated lung injury. [link.springer.com]

Prevention

Centers for Disease Control and Prevention. Available online at https://www.cdc.gov/flu/prevent/guillainbarre.htm. Accessed on 8/20/19. (October 2, 2017) Guillain-Barre Syndrome. Centers for Disease Control and Prevention. [labtestsonline.it]

Conventional treatment of Bartter syndrome includes maintaining fluid and electrolyte balance and indomethacin to prevent the production of prostaglandin 2. [jpgo.org]

Adverse effects of indomethacin include a decrease in the glomerular filtration rate, and gastrointestinal disturbances.[19] Cardiac evaluation is promoted in the prevention of dysrhythmias and monitoring of QT interval activity.[13] Medications that [en.wikipedia.org]

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