Gitelman syndrome is a genetic condition that affects the renal tubules, leading to hypomagnesemia, hypokalemia and hypocalciuria, as well as acid-base imbalance (metabolic alkalosis). Although Gitelman syndrome was previously thought to be a milder form of a tubular transport disorder ascribed to Bartter syndrome, it is now recognized as a distinct medical entity that should not be confused with Bartter's syndrome [1] [2] [3] [4].

Gitelman syndrome is characterized by a wide variety of symptoms; not all patients experience the full spectrum. Diarrhea, vomiting and tetany, as a result of significant hypomagnesemia related to fluid loss, are some of the reported symptoms. Paresthesias may be described, as well as weakness and fatigue that discourages the individuals from engaging in physical activity. However, there have been cases reported that do not display serious symptoms; a young adult has been described in the literature as exhibiting only leg cramps, weakness, vomiting, and malaise [5]. Growth is hindered only in cases of profound hypomagnesemia and hypokalemia [6].

Some Gitelman syndrome patients may also report swollen, burning and tender joints; this is attributed to the chondrocalcinosis that may accompany the rest of the symptoms. Some isolated reports have described neurological symptoms such as ataxia, visual impairment and vertigo as well. As for the cardiovascular system, although Gitelman syndrome causes ventricular arrhythmias, they only rarely result in any considerable symptomatology, with only a few patients experiencing cardiac arrest [7] [8]. Patients are usually hypotensive.

• Weakness

  Paresthesias may be described, as well as weakness and fatigue that discourages the individuals from engaging in physical activity. [symptoma.com]

  Differential diagnosis for muscle weakness and tetany is large. [sjkdt.org]

  In our patient, the symptoms started at the age of two years in the form of recurrent episodes of muscle weakness. [jmedicalcasereports.biomedcentral.com]

  His mother had more slight symptoms of weakness than him with mild hypokalemia and hypocalciuria. Mild hypomagnesemia was also observed in his sister with occasional weakness. [ncbi.nlm.nih.gov]

  Volume depletion is not as severe as in true Bartter syndrome, but patients can suffer from weakness, fatigue, dizziness, ataxia, and blurred vision. [wohproject.org]

• Fatigue

  Paresthesias may be described, as well as weakness and fatigue that discourages the individuals from engaging in physical activity. [symptoma.com]

  Clinical signs are mostly secondary to chronic hypokalemia and include dizziness, fatigue, constipation and weakness. Patients can also present with muscle cramps, tetany, fatigue and convulsions due to severe metabolic alkalosis or hypomagnesemia. [ncbi.nlm.nih.gov]

  Volume depletion is not as severe as in true Bartter syndrome, but patients can suffer from weakness, fatigue, dizziness, ataxia, and blurred vision. [wohproject.org]

  Case presentation A 17-year-old South Asian man with recurrent episodes of generalized muscle weakness, fatigue and cramps from the age of two years was admitted for further workup. [jmedicalcasereports.biomedcentral.com]

  Clinical findings are brief episodes of fatigue, syncope, vertigo, ataxia and blurred vision; sudden cardiac death might occur. This review aims to give insight into cardiovascular implications and management of GS. [imrpress.com]

• Fever

  Vomiting + fever ---------------- 8 months Non-projectile Vomiting + fever ---------------- 8 months Constipation + fever Rule out intussusceptions 1 y & 1 m Non-projectile Vomiting 3 times ---------------- 1 y & 6 m Non-projectile Vomiting + fever+ [oatext.com]

  A 17-year-old boy was admitted to our institution with fever and lethargy. The workup revealed typical features of GS, i.e. hypokalaemia, hypomagnesaemia and metabolic alkalosis. [ncbi.nlm.nih.gov]

• Short Stature

  We present a short statured boy with a clear history of familial short stature, normal growth and a final height prognosis within the target height range. However, routine laboratory studies led to the diagnosis of Gitelman syndrome. [ncbi.nlm.nih.gov]

  GS can sometimes cause short stature and growth failures [ 2 ], but to the best of our knowledge, GS has not previously been reported to cause delayed puberty. [jmedicalcasereports.biomedcentral.com]

  Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis.[8] Other features include: Short stature. [patient.info]

  Signs and symptoms are avid for salty foods, normal or low blood pressure, physical exercise intolerance, growth retardation, and short stature. [alicia.concytec.gob.pe]

• Disability

  Children with Bartter syndrome, more so than those with Gitelman syndrome, may be born prematurely and may have poor growth and development postnatally, and some children have intellectual disability. [merckmanuals.com]

  Results Analysis reveals four ways of experiencing Gitelman disease in daily life: as a disabling illness, as a normalized illness, as a different form of normality and as an episodic disability. [academic.oup.com]

  Some children are born prematurely and may be intellectually disabled. Children with Bartter syndrome and sometimes those with Gitelman syndrome may have poor growth and developmental delays. [msdmanuals.com]

  There exists wide variability and severity of symptoms between subjects, ranging from an almost asymptomatic disease to a severely disabling one. [els.net]

  […] on site | 2 posts I was diagnosed with Bartter syndrome 10 years ago and then re-diagnosed with gitelman's about 4 years ago and ive been in and out of the hospital so many time i lost count i lost 3 jobs last year because of it im now trying to get disability [mdjunction.com]

• Vomiting

  Differential diagnosis should include Bartter's syndrome, laxative abuse and chronic vomiting. [symptoma.com]

  Vomiting + fever ---------------- 8 months Non-projectile Vomiting + fever ---------------- 8 months Constipation + fever Rule out intussusceptions 1 y & 1 m Non-projectile Vomiting 3 times ---------------- 1 y & 6 m Non-projectile Vomiting + fever+ [oatext.com]

  SETTING & PARTICIPANTS: 6 patients with GS and 1 patient with surreptitious vomiting. [ncbi.nlm.nih.gov]

  A 14-year-old male with known GS diagnosed at 5 years of age and type 1 diabetes diagnosed at 9 years of age was admitted to the hospital with nausea, vomiting, abdominal pain, and dehydration. [care.diabetesjournals.org]

• Salt Craving

  The index patient, her sister, father and two aunts had a history of severe salt cravings, fatigue and tetanic episodes, leading to consumption of large quantities of salt and vinegar. [ncbi.nlm.nih.gov]

  A 22-year male presented with severe episodic fatigue involving all limbs associated with episodes of sinking, palpitations, salt craving, increased thirst and frequent micturition hampering his routine daily activities. [unboundmedicine.com]

  Patients usually present with muscle weakness, salt craving, thirst, nocturia, facial paresthesia, tetany, and abdominal pain. Gitelman Syndrome is an autosomal recessive disorder. [clinlabnavigator.com]

  Salt craving, nocturia, muscle weakness to paralysis, titanic episodes, and paresthesias have been reported as the most frequent cardinal symptoms, related to hypokalemia and/or hypomagnesemia. [cags.org.ae]

• Polydipsia

  His symptoms were aggravated by physical activity and hot weather, and were associated with polyuria, polydipsia, nocturia, paresthesias and occasional painless non-bloody diarrhea. [jmedicalcasereports.biomedcentral.com]

  […] hypokalaemia in Bartter's syndrome and Gitelman's syndrome may abruptly become life-threatening under certain aggravating conditions.[10] True Bartter's syndrome patients usually present aged >5 years with signs of vascular volume depletion, polyuria, and polydipsia [patient.info]

  […] consanguinity Pathogenesis mutation involving NaCl cotransporter (NCTT) which results in impaired Na+ reabsorption in distal convoluted tubule Genetics inheritance pattern autosomal recessive mutations chromosome SLC12A3 gene Presentation Symptoms polyuria polydipsia [step1.medbullets.com]

  Facts : Defect in the distal convoluted tubule ( DCT ) of the kidneys Kidneys fail to reabsorb sodium, magnesium, chloride, and potassium, causing them to be excreted into the urine History / PE : Polydipsia, polyuria Growth abnormalities Diagnosis : [medlibes.com]

  Signs and symptoms of Gitelman’s syndrome:Muscle crampsMuscle weaknessjoint painnocturia (having to urinate duringthe night and disturbing the patients sleep)nocturnal enuresis (involuntary urination at night)polydipsia (extreme thirst), polyuria (excessive [ourhealth.com]

• Abdominal Pain

  Patients usually present with muscle weakness, salt craving, thirst, nocturia, facial paresthesia, tetany, and abdominal pain. Gitelman Syndrome is an autosomal recessive disorder. [clinlabnavigator.com]

  Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. [ncbi.nlm.nih.gov]

  Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis.[8] Other features include: Short stature. [patient.info]

  pain vomiting Physical exam growth is often normal but can be delayed Studies Labs hypokalemia (lower than in Bartter’s) hypomagnesemia metabolic alkalosis genetic testing most definitive diagnosis Urine studies ↓ Ca2+ Differential Bartter’s syndrome [step1.medbullets.com]

• Muscle Weakness

  In our patient, the symptoms started at the age of two years in the form of recurrent episodes of muscle weakness. [jmedicalcasereports.biomedcentral.com]

  Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis.[8] Other features include: Short stature. [patient.info]

  Differential diagnosis for muscle weakness and tetany is large. [sjkdt.org]

  The clinical spectrum is wide and usually characterized by chronic fatigue, cramps, muscle weakness and paresthesiae. We describe a case of a 43 year-old male patient with early onset of knee arthritis and no other symptoms. [ncbi.nlm.nih.gov]

• Long Arm

  GS is caused by an inactivating mutation in the SLC12A3 gene, which is located on the long arm of chromosome 16 (16q13) and encodes a thiazide-sensitive sodium chloride cotransporter (NCCT). [ncbi.nlm.nih.gov]

  It is an autosomal recessive hereditary disease resulting from the mutation in the long arm of chromosome 16 in which the SLC12A3 gene which codes for the thiazide-sensitive Na-Cl cotransporter in the distal tubule is affected. [revistadeosteoporosisymetabolismomineral.com]

  In most cases, GS results from inactivating mutations in SLC12A3 gene, which encodes the NCC and consists of 26 exons and is located on the long arm of chromosome 16 (16q13) (6). [apm.amegroups.com]

  Gitelman syndrome is classified as an autosomal recessive hereditary tubulopathy caused by a mutation in the SCL12A3 gene located on the long arm of chromosome 16 (16q13).5 There are approximately 500 known mutations in this gene, which codes for the [revistas.unal.edu.co]

• Seizure

  We report a 13-year-old male with Gitelman syndrome who presented with altered mental status following a fall and scalp laceration and unremarkable brain CT, followed during hospitalization by somnolence and seizures. [ncbi.nlm.nih.gov]

  Most patients have mild symptoms, but severe ion imbalances could lead to seizures or heart arrhythmias. With treatment, including dietary management, patients have a normal life expectancy. [sema4.com]

  In this study, we presented a pregnant woman who experienced seizure due to electrolyte imbalance and diagnosed with Gitelman’s syndrome. [omicsonline.org]

  Seizures and facial paresthesia (the loss of sensation in the face) have also been known to occur. [verywellhealth.com]

• Vertigo

  Some isolated reports have described neurological symptoms such as ataxia, visual impairment and vertigo as well. [symptoma.com]

  Clinical findings are brief episodes of fatigue, syncope, vertigo, ataxia and blurred vision; sudden cardiac death might occur. This review aims to give insight into cardiovascular implications and management of GS. [imrpress.com]

  Although Gitelman's syndrome is described as an asymptomatic or benign disorder with characteristic electrolyte abnormalities, most reports of clinical series document presyncope, vertigo, ataxia, and blurred vision. [nejm.org]

• Asthenia

  The identification of the syndrome was fortuitous because the only symptoms felt by two brothers were asthenia and occasional nicturia appeared during puberty. [moh-it.pure.elsevier.com]

  RESULTS: Muscle cramps (41%) and asthenia (35%) were the most frequent presenting symptoms. [ncbi.nlm.nih.gov]

  Clinical consequences include chronic normotensive hypokalemic alkalosis, hypomagnesemia, hypocalciuria, polyuria/nocturia, chronic asthenia, muscular cramps, chondrocalcinosis and rarely cardiac arrhythmias. [els.net]

  These cramps, which had started three months earlier and were being treated with non-steroidal anti-inflammatory drugs (without complete remission), were accompanied by asthenia, adynamia, and a sensation of palpitations, and worsened shortly before the [revistas.unal.edu.co]

A detailed medical history, clinical examination and symptomatology, as well as laboratory testing are all used to diagnose Gitelman syndrome. Laboratory blood abnormalities include:

• Hypomagnesemia: less than 0.65 mmol/L
• Hypokalemia: between 2.3 and 3.1 mmol/L
• Hypocalciuria: less than 0.5 mg/kg/day

Although low serum magnesium and urine calcium had been regarded as a necessary part of the Gitelman syndrome diagnosis, a 2004 study reported two families with a valid diagnosis of Gitelman syndrome (corroborated by genetic tests), with women presenting with hypokalemia but normal urine calcium and serum magnesium [9]. The female patients of these families were also found to exhibit less severe hypokalemia and were generally asymptomatic. Patients with Gitelman syndrome tend to respond to diuretics, which suggests that the syndrome mainly affects the distal tubules. Genetic testing to confirm a diagnosis can be performed, if indicated. The gene involved is the SLC12A3 gene, encoding for the thiazide-sensitive NaCl cotransporter (NCC); the majority of patients affected by Gitelman syndrome exhibit SLC12A3 mutations. Genetic counseling is available for families affected by Gitelman syndrome.

Differential diagnosis should include Bartter's syndrome, laxative abuse and chronic vomiting. Other diagnostic modalities, such as electrocardiography or joint magnetic resonance imaging scans (MRI) can be employed depending on the symptoms reported by each individual.

• Hypocalciuria

  Abstract Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. [sjkdt.org]

  Gitelman syndrome is a genetic condition that affects the renal tubules, leading to hypomagnesemia, hypokalemia and hypocalciuria, as well as acid-base imbalance (metabolic alkalosis). [symptoma.com]

  Nijenhuis et al. demonstrated hypocalciuria and hypomagnesemia in mouse models for GS and chronic thiazide diuretic use. [jmedicalcasereports.biomedcentral.com]

  From Wikidata Jump to navigation Jump to search Human disease HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA GITELMAN SYNDROME Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria Gitelman's syndrome Potassium and Magnesium [wikidata.org]

  In 1966, Hillel J Gitelman described the variant which presents at a later age than Bartter's syndrome and with hypocalciuria. [patient.info]

Therefore, the recommended treatment has been based on potassium supplementation and a prostaglandin inhibitor; spironolactone1 is also an option, but with transient effect, and ACE inhibitors have been used in some studies.[15]The treatment is similar [patient.info]

Male patients tend to experience more severe symptoms and poor treatment effect. [ncbi.nlm.nih.gov]

Treatment: Vigorous treatment with potassium replacement is sufficient to alleviate most symptoms. Prognosis: Excellent. Ancillary treatments and support: Electrolyte monitoring. [wohproject.org]

We report a case of GS presenting in early childhood years and the consequences of delayed diagnosis and lack of treatment. [jmedicalcasereports.biomedcentral.com]

In general, the long-term prognosis of GS is excellent. [ncbi.nlm.nih.gov]

Prognosis To date, there is no evidence that GS affects life expectancy. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis - Gitelman syndrome Not supplied. Treatment - Gitelman syndrome Not supplied. Resources - Gitelman syndrome Not supplied. [checkorphan.org]

Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. [ncbi.nlm.nih.gov]

Etiology GS is caused by biallelic inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter NCC expressed in the apical membrane of cells lining the distal convoluted tubule. [orpha.net]

Celiac disease is an enteropathy for which the etiology is not known and where environmental, immunologic and genetic factors may all contribute to the disease. Celiac disease may lead to hypokalemia. [turkjnephrol.org]

Epidemiology Gitelman's syndrome is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood.[8] Bartter's syndrome is rare. [patient.info]

Introduction Clinical definition a renal tubular defect affecting the distal convoluted tubules characterized by mild hypokalemia mild metabolic alkalosis significant hypomagnesemia normal blood pressure Epidemiology incidence rare 1:40,000 demographics [step1.medbullets.com]

Summary Epidemiology Gitelman syndrome (GS) prevalence is estimated at 1 to 10 per 40,000 and potentially higher in Asia. GS is arguably the most frequent inherited tubulopathy. [orpha.net]

KEYWORDS: Acid–base; Electrolytes; Gitelman syndrome; Pathophysiology; Potassium [ncbi.nlm.nih.gov]

We review the molecular pathophysiology of Gitelman syndrome and related tubular disorders and discuss management in pregnancy. [scholars.northwestern.edu]

A pathophysiological and clinical uptodate. Endocrine 2012;41:53– [clinlabnavigator.com]

By taking the quite heterogeneous presentations and the apparently different pathophysiologies as the basis, the applicability of the physiologic classification has been tested. [journals.lww.com]

Hypomagnesemia is corrected with magnesium chloride (magnesium sulfate or oxide are avoided to prevent diarrhea) [ 7, 11 ]. Conclusion GS can present as early as two years of age. [jmedicalcasereports.biomedcentral.com]

Prevention - Gitelman syndrome Not supplied. Diagnosis - Gitelman syndrome Not supplied. Prognosis - Gitelman syndrome Not supplied. Treatment - Gitelman syndrome Not supplied. Resources - Gitelman syndrome Not supplied. [checkorphan.org]

Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA TAT : 3-5 weeks price : $990.00 Gitelman Syndrome via the SLC12A3 Gene method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking [genetests.org]

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