Anesthetic management of child with Gitelman Syndrome: case report.

Gitelman syndrome is a rare autosomal recessive inherited disease that affects the thiazidesensitive sodium-chloride cotransport channels and the magnesium channels in the distal convoluted tubule, leading to hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. There is no cure for this condition and supportive treatment relies on ionic supplementation and symptom management. Literature regarding the anesthetic approach is scarce. This case report presents the anesthetic management of a child with Gitelman syndrome and its difficult electrolyte optimization.

Diagnóstico de síndrome de Gitelman en paciente con condrocalcinosis / Diagnosis of gitelman syndrome in patient with condrocalcinosis

RESUMEN Introducción: El síndrome de Gitelman es una tubulopatía caracterizada por alcalosis metabólica hipopotasémica, hipomagnesemia e hipocalciuria. Sus efectos musculoesqueléticos son comunes, pudiendo provocar desarrollo de condrocalcinosis. Caso clínico: Paciente con condrocalcinosis de larga data asociada a hipomagnesemia crónica en tratamiento con calcio y magnesio. Tras la suspensión del tratamiento debido a una intervención quirúrgica presentó debilidad generalizada, alcalosis metabólica, hipopotasemia, hipomagnesemia e hipocalciuria con diagnóstico final de síndrome de Gitelman. Tras la instauración de tratamiento, mejoró clínica y analíticamente manteniendo cifras iónicas estables. Discusión y conclusiones: Resulta fundamental un adecuado diagnóstico de este tipo de tubulopatías, ya que un tratamiento adecuado evita complicaciones asociadas.

ABSTRACT Introduction: Gitelman syndrome is a renal tubule disease that involves hypokalaemic metabolic alkalosis, hypomagnesaemia and hypocalciuria. The musculoskeletal effects of Gitelman syndrome are common, including the development of chondrocalcinosis. Clinical case: A female patient with long-standing chondrocalcinosis associated with chronic hypomagnesaemia on treatment with calcium and magnesium. After the suspension of the treatment due to surgery, she presented with a generalised weakness, metabolic alkalosis, hypokalaemia, hypomagnesaemia and hypocalciuria, with final diagnosis of Gitelman syndrome. After re-introducing the treatment, she improved clinically, with electrolytes remaining stable. Discussion and conclusions: A proper diagnosis of this type of tubular diseases is essential because an adequate treatment avoids associated complications.

[Gitelman syndrome]. / Síndrome de Gitelman.

Gitelman syndrome is one of the salt losing tubulopathies. Hypokalemia and hypomagnesemia appear in the setting of the partial blockade of salt absorption in the distal tubule. We conducted a descriptive study of a case series of five patients with Gitelman syndrome (4 women, from 28 to 85 years) in our institution, between the years 2004 and 2015. The most frequent form of diagnosis in our series was by laboratory finding. The only acknowledged clinical symptom was malaise. Regarding laboratory findings, the mean potassemia was of 2.5 ± 0.5 mmol/l, with a minimum value of 2.1 mmol/l. Additionally, the serum magnesium value was of 1.3 ± 0.3 mg/dl. In conclusion, we observed that the forms of presentation consist of biochemical alterations with or without nonspecific manifestations, which currently represents the greatest diagnostic difficulty and reinforces the importance to achieve a timely diagnosis, especially in young patients with critical serum potassium values.

El síndrome de Gitelman forma parte de las denominadas tubulopatías perdedoras de sal. El bloqueo parcial de la reabsorción de sodio en el túbulo contorneado distal determina la aparición de hipokalemia e hipomagnesemia. Se realizó un estudio descriptivo de una serie de cinco casos de síndrome de Gitelman (4 mujeres, de 28 a 85 años de edad) atendidos en nuestra institución entre los años 2004 y 2015. La forma de diagnóstico más frecuente en nuestra serie fue por hallazgo de laboratorio. El único síntoma clínico manifestado en forma espontánea fue astenia. En cuanto a los valores de laboratorio, la potasemia fue 2.5 ± 0.5 mmol/l, con un valor mínimo de 2.1. Adicionalmente, el valor de magnesio en sangre fue 1.3 ± 0.3 mg/dl. Como conclusión, observamos que las formas de presentación consisten en alteraciones bioquímicas con o sin manifestaciones inespecíficas, lo que representa actualmente la mayor dificultad diagnóstica y refuerza la importancia de lograr un diagnóstico oportuno, en especial en pacientes jóvenes y con valores críticos de potasio sérico.

Síndrome de Gitelman / Gitelman syndrome

El síndrome de Gitelman forma parte de las denominadas tubulopatías perdedoras de sal. El bloqueo parcial de la reabsorción de sodio en el túbulo contorneado distal determina la aparición de hipokalemia e hipomagnesemia. Se realizó un estudio descriptivo de una serie de cinco casos de síndrome de Gitelman (4 mujeres, de 28 a 85 años de edad) atendidos en nuestra institución entre los años 2004 y 2015. La forma de diagnóstico más frecuente en nuestra serie fue por hallazgo de laboratorio. El único síntoma clínico manifestado en forma espontánea fue astenia. En cuanto a los valores de laboratorio, la potasemia fue 2.5 ± 0.5 mmol/l, con un valor mínimo de 2.1. Adicionalmente, el valor de magnesio en sangre fue 1.3 ± 0.3 mg/dl. Como conclusión, observamos que las formas de presentación consisten en alteraciones bioquímicas con o sin manifestaciones inespecíficas, lo que representa actualmente la mayor dificultad diagnóstica y refuerza la importancia de lograr un diagnóstico oportuno, en especial en pacientes jóvenes y con valores críticos de potasio sérico.

Gitelman syndrome is one of the salt losing tubulopathies. Hypokalemia and hypomagnesemia appear in the setting of the partial blockade of salt absorption in the distal tubule. We conducted a descriptive study of a case series of five patients with Gitelman syndrome (4 women, from 28 to 85 years) in our institution, between the years 2004 and 2015. The most frequent form of diagnosis in our series was by laboratory finding. The only acknowledged clinical symptom was malaise. Regarding laboratory findings, the mean potassemia was of 2.5 ± 0.5 mmol/l, with a minimum value of 2.1 mmol/l. Additionally, the serum magnesium value was of 1.3 ± 0.3 mg/dl. In conclusion, we observed that the forms of presentation consist of biochemical alterations with or without nonspecific manifestations, which currently represents the greatest diagnostic difficulty and reinforces the importance to achieve a timely diagnosis, especially in young patients with critical serum potassium values.

Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review.

BACKGROUND: Diabetic nephropathy is a global common cause of chronic kidney disease and end-stage renal disease. A lot of research has been conducted in biomedical sciences, which has enhanced understanding of the pathophysiology of diabetic nephropathy and has expanded the potential available therapies. An increasing number of evidence suggests that genetic alterations play a major role in development and progression of diabetic nephropathy. This systematic review was focused on searching an association between Arg913Gln variation in SLC12A3 gene with diabetic nephropathy in individuals with Type 2 Diabetes and Gitelman Syndrome. METHODS: An extensive systematic review of the literature was completed using PubMed, EBSCO and Cochrane Library, from their inception to January 2018. The PRISMA guidelines were followed and the search strategy ensured that all possible studies were identified to compile the review. Inclusion criteria for this review were: 1) Studies that analyzed the SLC12A3 gene in individuals with Type 2 Diabetes and Gitelman Syndrome. 2) Use of at least one analysis investigating the association between the Arg913Gln variation of SLC12A3 gene with diabetic nephropathy. 3) Use of a case-control or follow-up design. 4) Investigation of type 2 diabetes mellitus in individuals with Gitelman's syndrome, with a history of diabetic nephropathy. RESULTS: The included studies comprised 2106 individuals with diabetic nephropathy. This review shows a significant genetic association in most studies in the Arg913Gln variation of SLC12A3 gene with the diabetic nephropathy, pointing out that the mutations of this gene could be a key predictor of end-stage renal disease. CONCLUSIONS: The results showed in this systematic review contribute to better understanding of the association between the Arg913Gln variation of SLC12A3 gene with the pathogenesis of diabetic nephropathy in individuals with T2DM and GS.

Structure-function relationships in the renal NaCl cotransporter (NCC).

The thiazide-sensitive Na+-Cl- cotransporter (NCC) is the major pathway for salt reabsorption in the distal convoluted tubule, serves as a receptor for thiazide-type diuretics, and is involved in inherited diseases associated with abnormal blood pressure. The functional and structural characterization of NCC from different species has led us to gain insights into the structure-function relationships of the cotransporter. Here we present an overview of different studies that had described these properties. Additionally, we report the cloning and characterization of the NCC from the spiny dogfish (Squalus acanthias) kidney (sNCC). The purpose of the present study was to determine the main functional, pharmacological and regulatory properties of sNCC to make a direct comparison with other NCC orthologous. The sNCC cRNA encodes a 1033 amino acid membrane protein, when expressed in Xenopus oocytes, functions as a thiazide-sensitive Na-Cl cotransporter with NCC regulation and thiazide-inhibition properties similar to mammals, rather than to teleosts. However, the Km values for ion transport kinetics are significantly higher than those observed in the mammal species. In summary, we present a review on NCC structure-function relationships with the addition of the sNCC information in order to enrich the NCC cotransporter knowledge.

Regulation of the renal NaCl cotransporter by the WNK/SPAK pathway: lessons learned from genetically altered animals.

The renal thiazide-sensitive NaCl cotransporter (NCC) is the major salt transport pathway in the distal convoluted tubule of the mammalian nephron. NCC activity is critical for modulation of arterial blood pressure and serum potassium levels. Reduced activity of NCC in genetic diseases results in arterial hypotension and hypokalemia, while increased activity results in genetic diseases featuring hypertension and hyperkalemia. Several hormones and physiological conditions modulate NCC activity through a final intracellular complex pathway involving kinases and ubiquitin ligases. A substantial amount of work has been conducted to understand this pathway in the last 15 yr, but advances over the last 3 yr have helped to begin to understand how these regulatory proteins interact with each other and modulate the activity of this important cotransporter. In this review, we present the current model of NCC regulation by the Cullin 3 protein/Kelch-like 3 protein/with no lysine kinase/STE20-serine-proline alanine-rich kinase (CUL3/KELCH3-WNK-SPAK) pathway. We present a review of all genetically altered mice that have been used to translate most of the proposals made from in vitro experiments into in vivo observations that have helped to elucidate the model at the physiological level. Many questions have been resolved, but some others will require further models to be constructed. In addition, unexpected observations in mice have raised new questions and identified regulatory pathways that were previously unknown.

Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis.

The main causes of hypokalemia are usually evident in the clinical history of patients, with previous episodes of vomiting, diarrhea or diuretic use. However, in some patients the cause of hypokalemia can become a challenge. In such cases, two major components of the investigation must be performed: assessment of urinary excretion potassium and the acid-base status. This article presents a case report of a patient with severe persistent hypokalemia, complementary laboratory tests indicated that's it was hypomagnesaemia and hypocalciuria associated with metabolic alkalosis, and increase of thyroid hormones. Thyrotoxic periodic paralysis was included in the differential diagnosis, but evolved into euthyroid state, persisting with severe hypokalemia, which led to be diagnosed as Gitelman syndrome.

Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.

We present cases of 3 children diagnosed with the same genetic condition, Gitelman syndrome, at different stages using various genetic methods: panel testing, targeted single gene sequencing, and exome sequencing. We discuss the advantages and disadvantages of each method and review the potential of genomic sequencing for early disease detection.

Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis / Hipocalemia grave persistente: Síndrome de Gitelman e diagnósticos diferenciais

Abstract The main causes of hypokalemia are usually evident in the clinical history of patients, with previous episodes of vomiting, diarrhea or diuretic use. However, in some patients the cause of hypokalemia can become a challenge. In such cases, two major components of the investigation must be performed: assessment of urinary excretion potassium and the acid-base status. This article presents a case report of a patient with severe persistent hypokalemia, complementary laboratory tests indicated that's it was hypomagnesaemia and hypocalciuria associated with metabolic alkalosis, and increase of thyroid hormones. Thyrotoxic periodic paralysis was included in the differential diagnosis, but evolved into euthyroid state, persisting with severe hypokalemia, which led to be diagnosed as Gitelman syndrome.

Resumo As principais causas de hipocalemia normalmente são evidentes na história clínica dos pacientes em investigação etiológica, com episódios prévios de vômitos, diarréia ou uso de diuréticos. Entretanto, em alguns pacientes, a causa da hipocalemia pode se tornar um desafio. Em tais casos, dois principais componentes da investigação devem ser realizados: avaliação da excreção do potássio urinário e do "status" ácido-básico. Este artigo traz um relato de caso de uma paciente portadora de hipocalemia grave persistente, com investigação laboratorial complementar caracterizada por hipomagnesemia e hipocalciúria, associada à alcalose metabólica e elevação dos hormômios tireoideanos. A apresen- tação inicial do quadro incluiu paralisia periódica tireotóxica como um dos principais diagnósticos diferenciais, porém, a paciente evoluiu para um es- tado eutireoideo e persistiu com grave hipocalemia, sendo, por fim, realizado diagnóstico clínico de Síndrome de Gitelman.

A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome.

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. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a novel homozygous SLC12A3 mutation: c.2099T>C and p.Leu700Pro. Moreover, the SLC12A3 genes of his mother and daughter encoded the same mutated heterozygote. It was noted that in this pedigree, only the proband complained about recurrent episodes of bilateral lower limb weakness over 8 years, while his elder sister, mother and daughter did not present symptoms. The inconsistent clinical features of this pedigree implied that besides diverse phenotypes possibly originated from the same genotype, gender difference may also dominate the variant GS phenotypes. Further genetic and proteomic research are needed to investigate the precise mechanisms of GS, including the study of specific ethnicities.

Transient hyperphosphatemia: a benign laboratory disorder in a boy with Gitelman syndrome.

Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), predominantly its bone or liver isoform, in children under five years of age. There are no signs of metabolic bone disease or hepatopathy corresponding with the increased S-ALP. THI is benign disorder, rather laboratory than clinical disorder, which is usually accidentally detected in both healthy and sick children. When encountered in a child with either chronic bone, liver or kidney disease, it might concern the physician. We present a three year old boy with genetically confirmed Gitelman syndrome where THI was detected accidentally during periodic check-up. S-ALP peaked to 41.8 µkat/L, there were neither laboratory or clinical signs of liver or bone disease; the S-ALP dropped to normal value of 4 µkat/L 60 days later. Therefore, the patient fulfilled the criteria for THI. There were no further increases in S-ALP.

Resumo A hiperfosfatasemia transitória benigna da infância (HTBI) é caracterizada por elevação transitória da atividade da fosfatase alcalina sérica (S-ALP), predominantemente em sua isoforma óssea ou hepática, em crianças com menos de cinco anos de idade. Não há sinais de patologia óssea metabólica ou hepatopatia correspondentes ao aumento da S-ALP. A HTBI é um distúrbio benigno, mais laboratorial que clínico, normalmente detectado acidentalmente em crianças saudáveis e acometidas por alguma patologia. Quando encontrada em crianças com doença crônica óssea, hepática ou renal, maiores preocupações são justificadas. O presente relato descreve o caso de um menino de três anos de idade com síndrome de Gitelman geneticamente confirmada, em que a HTBI foi detectada acidentalmente durante um exame periódico. A S-ALP atingiu o pico de 41,8 µkat/L, sem sinais laboratoriais ou clínicos de doença hepática ou óssea. O valor de S-ALP caiu para o nível normal de 4 µkat/L 60 dias mais tarde. Portanto, o paciente satisfazia os critérios para HTBI. Não houve outros aumentos na S-ALP.

Transient hyperphosphatemia: a benign laboratory disorder in a boy with Gitelman syndrome / Hiperfosfatemia transitória: uma alteração laboratorial benigna em um menino com síndrome de Gitelman

Abstract Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), predominantly its bone or liver isoform, in children under five years of age. There are no signs of metabolic bone disease or hepatopathy corresponding with the increased S-ALP. THI is benign disorder, rather laboratory than clinical disorder, which is usually accidentally detected in both healthy and sick children. When encountered in a child with either chronic bone, liver or kidney disease, it might concern the physician. We present a three year old boy with genetically confirmed Gitelman syndrome where THI was detected accidentally during periodic check-up. S-ALP peaked to 41.8 µkat/L, there were neither laboratory or clinical signs of liver or bone disease; the S-ALP dropped to normal value of 4 µkat/L 60 days later. Therefore, the patient fulfilled the criteria for THI. There were no further increases in S-ALP.

Resumo A hiperfosfatasemia transitória benigna da infância (HTBI) é caracterizada por elevação transitória da atividade da fosfatase alcalina sérica (S-ALP), predominantemente em sua isoforma óssea ou hepática, em crianças com menos de cinco anos de idade. Não há sinais de patologia óssea metabólica ou hepatopatia correspondentes ao aumento da S-ALP. A HTBI é um distúrbio benigno, mais laboratorial que clínico, normalmente detectado acidentalmente em crianças saudáveis e acometidas por alguma patologia. Quando encontrada em crianças com doença crônica óssea, hepática ou renal, maiores preocupações são justificadas. O presente relato descreve o caso de um menino de três anos de idade com síndrome de Gitelman geneticamente confirmada, em que a HTBI foi detectada acidentalmente durante um exame periódico. A S-ALP atingiu o pico de 41,8 µkat/L, sem sinais laboratoriais ou clínicos de doença hepática ou óssea. O valor de S-ALP caiu para o nível normal de 4 µkat/L 60 dias mais tarde. Portanto, o paciente satisfazia os critérios para HTBI. Não houve outros aumentos na S-ALP.

Clinical and genetic analyses of Chinese patients with Gitelman syndrome.

To evaluate the genotype-phenotype relationship of Gitelman syndrome in Chinese patients. We selected patients with Gitelman syndrome presenting hypokalemia. Medical history, clinical manifestations, laboratory test results, and imaging data of these patients were collected for analysis. Target gene sequencing was performed to evaluate the genotype-phenotype relationship. Gitelman syndrome was diagnosed based on medical history, clinical manifestations, laboratory test results, and imaging data. The causative gene for Gitelman syndrome, SLC12A3, and the causative gene for the classic Bartter syndrome, CLCNKB, were screened for disease-causing mutations by direct sequencing. Clinical diagnoses of ten patients were consistent with Gitelman syndrome. Disease-causing mutations in the SLC12A3 gene were found in six patients. Among the variants, T60M in exon 1 was the hot spot in Chinese patients. Additionally, we found a small deletion of ACGG in exon 3 and L671P in exon 16; these have not been reported in previous studies. No disease-causing mutations were observed in the other four patients. Since mutations in the SLC12A3 and CLCNKB genes are not present in all patients with clinical manifestations of Gitelman syndrome, genetic screening after clinical diagnosis is essential.

A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome

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. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a novel homozygous SLC12A3 mutation: c.2099T>C and p.Leu700Pro. Moreover, the SLC12A3 genes of his mother and daughter encoded the same mutated heterozygote. It was noted that in this pedigree, only the proband complained about recurrent episodes of bilateral lower limb weakness over 8 years, while his elder sister, mother and daughter did not present symptoms. The inconsistent clinical features of this pedigree implied that besides diverse phenotypes possibly originated from the same genotype, gender difference may also dominate the variant GS phenotypes. Further genetic and proteomic research are needed to investigate the precise mechanisms of GS, including the study of specific ethnicities.

[Gitelman's Syndrome: from diagnosis to follow-up during pregnancy]. / Síndrome de Gitelman: do diagnóstico ao acompanhamento na gestação

Gitelman's Syndrome (GS) is a rare autosomal recessive salt-wasting nephropathy, classically characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and low blood pressure. Fatigue, muscle weakness and muscle paralysis are common symptoms. Besides the typical electrolyte disturbances, others laboratory findings include hyperreninemia and secondary hyperaldosteronism. Bilateral nephrocalcinosis may occur. The treatment consists of potassium replacement and use of aldosterone antagonists. The best approach to pregnant women with GS is yet to be defined. However, we emphasize the need for ions supplementation, weight control as a clinical tool for assessing the water balance, and frequent monitoring of the fetus and amniotic fluid levels. The surgical risk associated with cesarean section in a patient with GS is not yet defined. Despite the risks related to symptomatic episodes of hypokalemia/hypomagnesemia, GS has a good prognosis when treated properly. Pregnancy imposes the need for more intensive control of the disease, but has a good prognosis for the mother and neonate.

Síndrome de Gitelman: do diagnóstico ao acompanhamento na gestação / Gitelman's Syndrome: from diagnosis to follow-up during pregnancy

Resumo A síndrome de Gitelman (SG) é uma forma rara de nefropatia autossômica recessiva perdedora de sal, caracterizada classicamente por hipocalemia, hipomagnesemia, hipocalciúria, alcalose metabólica e pressão arterial baixa. Fadiga, fraqueza muscular e paralisia muscular estão entre seus sintomas mais comuns. Além dos distúrbios eletrolíticos típicos, outros achados laboratoriais incluem a hiperreninemia e o hiperaldosterismo secundário. Nefrocalcinose bilateral pode ocorrer. O tratamento consiste basicamente na reposição de potássio e uso de antagonistas da aldosterona. A melhor abordagem para gestantes portadoras de SG ainda está por ser definida. Entretanto, enfatiza-se a necessidade de suplementação dos íons, o controle do peso como ferramenta clínica de avaliação do balanço hídrico e a monitorização frequente do feto e dos níveis de líquido amniótico. O risco cirúrgico associado à cesariana em paciente com SG não está definido. Apesar dos riscos associados às crises sintomáticas de hipocalemia/hipomagnesemia, a SG apresenta bom prognóstico quando adequadamente tratada. A gravidez impõe a necessidade de controle mais intenso da doença, mas apresenta bom prognóstico para o binômio materno-fetal.

Abstract Gitelman's Syndrome (GS) is a rare autosomal recessive salt-wasting nephropathy, classically characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and low blood pressure. Fatigue, muscle weakness and muscle paralysis are common symptoms. Besides the typical electrolyte disturbances, others laboratory findings include hyperreninemia and secondary hyperaldosteronism. Bilateral nephrocalcinosis may occur. The treatment consists of potassium replacement and use of aldosterone antagonists. The best approach to pregnant women with GS is yet to be defined. However, we emphasize the need for ions supplementation, weight control as a clinical tool for assessing the water balance, and frequent monitoring of the fetus and amniotic fluid levels. The surgical risk associated with cesarean section in a patient with GS is not yet defined. Despite the risks related to symptomatic episodes of hypokalemia/hypomagnesemia, GS has a good prognosis when treated properly. Pregnancy imposes the need for more intensive control of the disease, but has a good prognosis for the mother and neonate.

[Severe hypokalemic rhabdomyolysis. Report of six cases]. / Rabdomiólisis por hipopotasemia severa.

Rhabdomyolysis results from acute necrosis of skeletal muscle fibers and consequent leakage of muscle constituents into the circulation. It ranges from an asymptomatic state to a severe condition associated with extreme elevations in creatine kinase and acute renal failure. Reported etiologies of rhabdomyolysis include alcohol abuse, drugs, muscle trauma and muscle overexertion. Less common causes include muscle enzyme deficiencies, electrolyte abnormalities, infectious causes, toxins and endocrine disorders. Hypokalemia is a rare cause of rhabdomyolysis. We report six patients aged 31 to 57 years (three women) with a severe hypokalemic rhabdomyolysis, secondary to chronic diarrhea in two patients, treatment with loop diuretics in one and Gitelman syndrome in three. Rhabdomyolysis may be underdiagnosed in the context of hypokalemia, because the neuromuscular symptoms can be attributed solely to the electrolyte disorder.

Rabdomiólisis por hipopotasemia severa: Report of six cases / Severe hypokalemic rhabdomyolysis

Rhabdomyolysis results from acute necrosis of skeletal muscle fibers and consequent leakage of muscle constituents into the circulation. It ranges from an asymptomatic state to a severe condition associated with extreme elevations in creatine kinase and acute renal failure. Reported etiologies of rhabdomyolysis include alcohol abuse, drugs, muscle trauma and muscle overexertion. Less common causes include muscle enzyme deficiencies, electrolyte abnormalities, infectious causes, toxins and endocrine disorders. Hypokalemia is a rare cause of rhabdomyolysis. We report six patients aged 31 to 57 years (three women) with a severe hypokalemic rhabdomyolysis, secondary to chronic diarrhea in two patients, treatment with loop diuretics in one and Gitelman syndrome in three. Rhabdomyolysis may be underdiagnosed in the context of hypokalemia, because the neuromuscular symptoms can be attributed solely to the electrolyte disorder.