Characteristics of hypoparathyroidism in Colombia: data from a single center in the city of Medellín

ABSTRACT Objective Hypoparathyroidism is a rare condition, whose most common etiology is complications of neck surgery. The aim of the study was to identify the clinical and biochemical profile of the patients with diagnosis of hypoparathyroidism, including the frequency of symptoms, clinical signs, long-term complications and disease control. Additionally, the study sought to know what the medication profile was, and the doses required by the patients. Subjects and method A retrospective cohort study was conducted wherein all patients with ICD-10 codes associated with hypoparathyroidism between 2011 and 2018 at the Hospital Universitario San Vicente Fundación were included. We investigated the etiology of the disease; biochemical profile including lowest serum calcium, highest serum phosphorus, 25OHD levels, calciuria and calcium/phosphorus product; medication doses, disease control, and presence of complications, especially renal and neurologic complications were also evaluated. Results The cohort included 108 patients (99 women/9 men) with a mean age of 51.6 ± 15.6 years. The main etiology was postoperative (93.5%), the dose of elemental calcium received was relatively low (mean 1,164 mg/day), and in only 9.2% of cases more than 2,500 mg/day of elemental calcium was necessary. We were able to evaluate the follow-up in 89 patients, and found that only 57.3% met the criteria for controlled disease. Conclusion The clinical profile of patients with hypoparathyroidism in our cohort is similar to that described in other international studies, with predominantly postoperative etiology. With standard therapy, only adequate control is achieved in a little more than half of patients. Arch Endocrinol Metab. 2020;64(3):282-9

Complicaciones derivadas de la tiroidectomía en el Hospital General "Calixto García" / Thyroidectomy complications observed in ¨Calixto Garcia¨ general hospital

Introducción: el tiroides es una glándula donde se asienta con frecuencia la enfermedad nodular tanto benigna como maligna. En muchas ocasiones, se presenta con criterio de intervención quirúrgica. De ella se derivan complicaciones tales como el hipoparatiroidismo posoperatorio, la lesión de los nervios laríngeos superiores, y recurrentes, así como hematoma del sitio operatorio todo lo cual nos motivó a realizar el presente trabajo. Objetivos: identificar las complicaciones derivadas de las tiroidectomías y relacionarlas con las variantes anatómicas y la extensión de la tiroidectomía. Método: se estudiaron un total de 234 intervenciones realizadas sobre el tiroides en nuestro centro desde febrero de 2012 hasta octubre de 2015. Se aplicó el método de porcientos para el cálculo de todas las variables. Se obtuvo la información existente en las historias clínicas y los informes operatorios. Resultados: la mayoría de las tiroidectomías realizadas en nuestro centro son las de afecciones benignas. Las variantes anatómicas anómalas del laríngeo recurrente se evidenciaron en algunos casos. Hubo una lesión recurrencial temporal y otra permanente para un 0,42 por ciento respectivamente. Se apreciaron tres hipoparatiroidismo temporales, con 1,28 por ciento, y una lesión vascular de arteria tiroidea media anterior anómala. Conclusiones: las afecciones benignas aún son las más frecuentes en el tiroides. El conocimiento de la anatomía del tiroides y sus variantes son vitales para realizar tiroidectomías. Las complicaciones como el hipoparatiroidismo y la lesión recurrencial se relacionan con la extensión de esta(AU)

Introduction: The thyroid gland is the frequent location of the nodular illness either benign or malignant. In many occasions, the surgical procedure is the main criterion to treat the disease. Some of the complications associated to surgery are postoperative hypoparatyroidism, upper laryngeal nerve injure, mostly outer branch; recurrent laryngeal nerve, and hematoma in the surgical site. Objectives: To identify the most frequently illnesses affecting the thyroid. Method: A total of 234 surgeries performed in the thyroid in our center from February 2012 to October 2015 were studied. The percentage method was used to estimate all the variables. Required information was taken from the medical histories and the surgery reports. Results: Most of the thyroidectomies performed in our center were on benign lesions. The anomalous anatomical variants of the recurrent laryngeal nerve were evident in some cases. There was one temporary recurrent lesion and one permanent, accounting for 0.42%, respectively. Three cases of temporary hypoparathyroidism for 1.28% and a vascular lesion in the anomalous anterior medial thyroid artery were reported. Conclusions: Benign illnesses are still the most frequent ones in the thyroid gland. The knowledge about the thyroid anatomy and its variants are vital to perform thyroidectomies. Hypoparathyroidism and recurrent laryngeal lesion are the complications related to the extension of thyroidectomy(AU)

Síndrome do QT longo adquirido em paciente portadora de doença de Fahr / Acquired long QT syndrome in a patient with Fahr's disease

A síndrome do QT longo é uma doença caracterizada por um atraso na repolarização ventricular, que se manifesta como síncope cardíaca até morte súbita. Alguns distúrbios hidroeletrolíticos podem corresponder à forma adquirida da síndrome, como a hipocalcemia. A hipocalcemia pode ocorrer em função do hipoparatireoidismo, que, em um quadro crônico, pode determinar calcificação em núcleos da base no sistema nervoso central, caracterizando a doença de Fahr. Paciente ISC, sexo feminino, 71 anos, referiu episódio de perda súbita da consciência associado a movimentos tônico-clônicos e relaxamento esfincteriano.Os achados do exame físico foram hipotensão arterial (80x60mmHg) e bradipsiquismo. Foi realizado eletrocardiograma, que mostrou alargamento do segmento QT, corrigido em 0,57'' pela fórmula de Bazett. Na história pregressa, referiu tiroidectomia parcial à direita há 20 anos, hipotireoidismo e hipertensão arterial. Fazia uso de quatro anti-hipertensivos e de um tireoestimulante. A análise da tomografia de crânio mostrou densos componentes calcificados nas regiões dos gânglios da base. A ultrassonografia de tireoide mostrou lobotomização à direita. O diagnóstico de hipoparatireoidismo foi suspeitado pelos sintomas de fadiga, sonolência, e sinais de Chvostek e Trousseau positivos, e confirmado por exames que demonstraram hipocalcemia significativa, hiperfosfatemia e níveis reduzidos de hormônio paratireóideo. Por se tratar de um quadro insidioso, o diagnóstico de hipoparatireoidismo é pouco elucidado apenas pela clínica. Neste caso, o alargamento do QT foi imprescindível para esclarecer e tratar sua etiologia. Além disso, a doença de Fahr, apesar de rara, deve ser considerada diante de um paciente com hipoparatireoidismo e história clínica compatível

Long QT syndrome is a disease characterized by a delay in ventricular repolarization that is manifested as cardiac syncope or even as sudden death. Some water and electrolyte disturbances can reflect the acquired form of the syndrome, such as hypocalcemia. Hypocalcemia can arise because of hypoparathyroidism, which in a chronic setting can determine basal ganglia calcification in the central nervous system, featuring Fahr's disease. ISC, female, 71, reported an episode of sudden loss of consciousness associated with tonic-clonic movements, and sphincter relaxation. Physical examination findings were hypotension (80x60mm Hg) and bradypsychism. The electrocardiogram (ECG) showed QT interval prolongation, corrected for 0.57'' by Bazett's formula. In her previous history she reported right partial thyroidectomy 20 years ago, hypothyroidism and high blood pressure. She made use of four anti-hypertensive drugs and one thyroid stimulating hormone. CT scan analysis showed dense calcified componentes in the regions of basal ganglia. Thyroid ultrasound showed right lobotomization. The diagnosis of hypoparathyroidism was suspected due to symptoms of fatigue, sleepiness, and positive signs of Chvostek and Trousseau, and confirmed by tests that showed significant hypocalcemia, hyperphosphatemia and low levels of parathyroid hormone (PTH) Because of its insidious picture, the diagnosis of hypoparathyroidism is only slightly elucidated by the clinical exam. In this case, QT prolongation was essential to clarify and treat its etiology. Furthermore, Fahr's disease, although rare, should be considered in a patient with hypoparathyroidism and consistent clinical history.

Diagnóstico tardio de síndrome de DiGeorge em criança hipocalcêmica: relato de caso / Late diagnosis of DiGeorge syndrome in hypocalcemic child: case report

A Síndrome de DiGeorge (SDG) decorre de uma microdeleção 22q11.2, sendo considerada uma das microdeleções mais frequentes em humanos. Caracteriza-se por espectro fenotípico bastante amplo, incluindo dificuldade de aprendizado, fácies dismórfica, anomalias cardíacas, hipocalcemia, hipoparatireoidismo, fenda palatina, anomalias do timo, insuficiência imunológica e problemas de fala e alimentação. Contudo, nenhum achado é patognomônico ou mesmo obrigatório. Este relato de caso pretende chamar a atenção para essa síndrome como causa potencial de hipocalcemia e convulsões hipocalcêmicas mesmo após o período neonatal. Reporta-se a história clinico-laboratorial e manejo de um menino de 12 anos, diagnosticado aos sete com SDG em decorrência de facies típica e crise convulsiva hipocalcêmica. O paciente apresentava diagnóstico prévio de transtorno do déficit de atenção e hiperatividade, atraso no desenvolvimento neuropsicomotor e fácies suspeita (micrognatia, orelhas de implantação baixa, hipertelorismo, nariz angular). A hipocalcemia que deflagrou a crise convulsiva foi secundária ao hipoparatireoidismo, sendo tratado com carbonato de cálcio e calcitriol. Houve melhora clínica, porém se manteve hipocalcêmico, apesar de dose otimizada da medicação. O caso é atípico, já que o diagnóstico de SDG foi feito tardiamente, visto que a maioria dos casos é diagnosticada no período neonatal. Além disso, o quadro demonstra a variabilidade de achados clínicos que podem ser encontrados nessa síndrome e a importância de se investigar a SDG em pacientes que apresentem hipocalcemia, mesmo em idades mais avançadas. Salienta-se que o diagnostico tem relevância na implicação dos cuidados à saúde, devido aos riscos imunológicos e cardiológicos apresentados pelos pacientes portadores, devendo ser realizado o mais precocemente possível.(AU)

The DiGeorge Syndrome (DGS) stems from a 22q11.2 microdeletion and is considered one of the most frequent microdeletions in humans. It is characterized by very wide phenotypic spectrum, including learning disability, dysmorphicfacies, cardiac abnormalities, hypocalcemia, hypoparathyroidism, cleft palate, thymus abnormalities, immune impairment and speech and feeding problems. However, any finding is pathognomonic or even mandatory. This case report aims to draw attention to this syndrome as a potential cause of hypocalcemia and hypocalcemic seizures even after the neonatal period. Refers to clinical and laboratory history and management of a boy of 12, diagnosed at 07 with DGS due to typical facies and hypocalcemic seizure. The patient had a previous diagnosis of attention deficit hyperactivity disorder, developmental delay and suspected facies (micrognathia, low-set ears, hypertelorism, angular nose). Hypocalcemia that triggered the seizure was secondary to hypoparathyroidism, being treated with calcium carbon- ate and calcitriol. There was clinical improvement, but hypocalcemic remained despite optimal medication dose. The case is atypical, since the diagnosis DGS was made later, as the majority of cases are diagnosed in the neonatal period. In addition, the table shows the variability of clinical findings that can be found in this syndrome and the importance of investigating the DGS in patients who have hypocalcaemia, even at older ages. Please note that the diagnosis is relevant in the involvement of health care due to immunological and cardiac risks posed by patients and should be done as early as possible.(AU)

Widespread intracranial calcifications in a patient with hypoparathyroidism

No abstract available.

Cáncer diferenciado de tiroides y tiroiditis de Hashimoto en el Instituto Nacional de Oncología y Radiobiología (2006 - 2010) / Differentiated thyroid cancer and Hashimoto's Thyroiditis at the National Institute of Oncology and Radiobiology (2006-2010)

Objetivos: describir el comportamiento del cáncer de tiroides en los pacientes con tiroiditis de Hashimoto. Métodos: se realizó un estudio observacional, descriptivo, longitudinal y retrospectivo, con 71 pacientes portadores de tiroiditis de Hashimoto, tratados en el Instituto Nacional de Oncología y Radiobiología desde 2006 hasta 2010. Resultados: la tiroiditis de Hashimoto con la presencia de nódulos fue más frecuente en los grupos de edades entre 50 y 59 años. El sexo más afectado fue el femenino. De los 71 pacientes que integraron nuestro universo de estudio, a 12 (16,9 por ciento) se les diagnosticó carcinoma de tiroides de la variante papilar y todos del sexo femenino, y la incidencia del cáncer tiroideo aumentó con la edad. El hipoparatiroidismo transitorio fue la complicación posoperatoria más importante. Conclusiones: a mayor tiempo de evolución de la tiroiditis de Hashimoto mayor probabilidad de que aparezca un nódulo de tiroides y de adquirir un cáncer de tiroides. El manejo de los nódulos tiroideos asociados a la tiroiditis de Hashimoto es el mismo que el de los nódulos tiroideos sin tiroiditis. Para su evaluación nos apoyamos en la citología aspirativa con aguja fina, la ecografía, la biopsia por congelación, los factores pronósticos y de riesgos, también en la biopsia por inclusión en parafina. Se considera a la citología aspirativa con aguja fina de valor, en la exploración de un nódulo tiroideo(AU)

Objectives: to describe the behavior of the thyroid cancer in patients with Hashimoto's thyroiditis. Methods: retrospective, longitudinal, descriptive and observational study of 71 patients suffering Hashimoto's thyroiditis and treated at the National Institute of Oncology and Radiobiology during 2006 through 2010. Results: Hashimoto's thyroiditis associated with thyroid nodules was more frequent in 50-59 years group and women were the most affected. Twelve (16.9 percent) out of 71 patients who formed the universe of study were diagnosed with papillary thyroid carcinoma, all of them women. The incidence of thyroid cancer increased with the age. Transient hypoparathyroidism was the most important postoperative complication. Conclusions: the longer evolution of Hashimoto's thyroiditis, the greater probability of occuring thyroid nodules, with the risk of developing thyroid cancer. The management of nodular Hashimoto's thyroiditis is the same as that of thyroid nodule without thyroiditis. For their assessment, the main methods are fine needle aspiration biopsy, echography, freezing biopsy, prognostic and risks factors, and paraffin biopsy. Fine needle aspiration biopsy has is very important in the screening of a thyroid nodule(AU)

Reversible dilated cardiomyopathy caused by idiopathic hypoparathyroidism

Dilated cardiomyopathy (DCM) is usually an idiopathic disease with a poor prognosis. Hypocalcemia is a rare and reversible cause of DCM. Here, we report a 50-year-old female with DCM, induced by idiopathic hypoparathyroidism, that improved after treatment with calcium.

Calcificações nos núcleos da base após hipoparatireoidismo secundário: relato de caso / Cerebral calcifications due to secondary hypoparathyroidism: case report

JUSTIFICATIVA E OBJETIVOS: As calcificações dos gânglios da base ocorrem em diversas situações clínicas e podem se apresentar de modo variado. Desde formas assintomáticas e incidentalmente encontradas em exames de imagem; até formas convulsivas graves ou manifestações clínicas de parkinsonismo.O objetivo deste estudo foi relatar um caso de hipocalcemia com repercussões neurológicas 10 anos após hipoparatireoidismo secundário devido à tireoidectomia por carcinoma folicular. RELATO DO CASO: Paciente do sexo feminino, 23 anos, submetida à tireoidectomia aos 9 anos de idade devido a carcinoma folicular, tendo posteriormente recebido dose de I131 e desde então em uso de puran T4. Após aproximadamente 10 anos da cirurgia,iniciou episódios de crises convulsivas tônico-clônicas, além de parestesias e episódios de tetania. Hipoparatireoidismo com manifestações neurológicas, diagnosticado longo tempo após a cirurgia de tireoide é considerado uma raridade. A paciente procurou atendimento médico facultativo com quadro sugestivo de crise convulsiva e tetania. Solicitado exames laboratoriais e tomografia computadorizada (TC) de crânio que demonstrou áreas de calcificações cerebrais nos núcleos caudados, lenticulares e tálamo. Tratada com cálcio e Vitamina D apresentando melhora clínica importante. CONCLUSÃO: O tratamento do hipoparatireoidismo com cálcio e vitamina D, restabelecendo a calcemia, propiciou a estabilizaçãodo quadro neurológico.

BACKGROUND AND OBJECTIVES: Calcifications of the basal ganglia occur in various clinical situations and can present variably. Even asymptomatic forms which are incidentally found on imaging studies until severe seizures or clinical manifestations of parkinsonism are described. To report a case of hypocalcemia with neurological repercussions ten years after secondary hypoparathyroidism due to thyroidectomy for follicular carcinoma. CASE REPORT: The diagnosis of hypoparathyroidism with neurological findings occurring years after thyroid surgery is considered to be rare. The authors describe one case of hypoparathyroidismassociated to brain calcifications diagnosed ten yearsafter thyroidectomy due to follicular thyroid carcinoma. Thepatient was admitted to Emergency Service presenting with seizures,without a previous diagnosis of hypoparathyroidism. Thediagnosis was suspected adding the biochemical analysis and thecerebral computed tomography, which showed cerebral calcificationsin basal ganglia. The patient was treated with calcium andvitamin D with improvement of clinical status. CONCLUSION: The treatment of hypoparathyroidism withcalcium and vitamin D, restoring the calcium levels, brought thestabilization of the neurological symptoms.

Manifestações neuropsiquiátricas da Síndrome de Fahr: relato de caso / Neuropsychiatric manifestations of Fahr's Syndrome: a case-report

As calcificações cerebrais são alterações relativamente comuns, podendo estar presentes em diversas condições clínicas. A Síndrome de Fahr é uma destas condições. Relatamos o caso de uma paciente com alterações do comportamento, do humor, desordens dos movimentos e crises convulsivas. Foram encontradas alterações tomográficas compatíveis com a Síndrome de Fahr e achados laboratoriais típicos do hipoparatireoidismo.

Brain calcifications are relatively common and may be present in various clinical conditions. Fahr's syndrome is one of those conditions. We report a patient with abnormal behavior, changes of mood, movement disorders and seizures. CT changes consistent with the pattern described for Fahr's Syndrome and laboratory findings typical of hypoparathyroidism were found.

Paratireóides: estrutura, funções e patologia / Parathyroid glands: structure, functions and pathology

Os autores tecem considerações sobre a estrutura e funções normais das glândulas paratireóides como introdução à patologia e as repercussões clinico - patológicas tanto do excesso como da redução do paratormônio. Maior ênfase é dedicada ao hiperparatireoidismo primário quanto às causas, a fisiopatologia das alterações, os aspectos anatomopatológicos macro e microscópicos das lesões e sua patogenia, na "Osteite fibrocistica" ou "doença de von Recklinghausen dos ossos" com a correlação aos aspectos radiográficos. Apresentam caso de paciente, cuja história clinica demonstra as dificuldades encontradas para o diagnóstico da doença. Referem-se ainda às alterações e patogenia das formas de hiperparatireoidismo secundário e terciário e ao hipoparatireoidismo.

The authors present a summary on the normal anatomy and function of the parathyroid glands as well as a brief review of clinical and pathological repercussions of higher and lower parathyroid hormone production. The emphasis is given on the causes, physiopathology, anatomy, macroscopy and microscopy of the lesions and their role in the genesis of fibrocystic osteitis, also known as Von Recklinhausen disease of the bones. Radiological correlation is also given. The authors show the challenges for the diagnosis in the same cases. We also write about secondary and tertiary hyperparathyroidism, as well as hypoparathyroidism.

A rare cause of heart failure--primary hypoparathyroidism.

We report a patient who presented with congestive heart failure (ejection fraction 24.4%) and who had previous history of convulsions. Our investigations found him to be a case of primary hypoparathyroidism. He showed a dramatic response with the addition of calcium infusion therapy with almost full recovery of left ventricular function (67% ejection fraction after 16 days of the initial echo). We conclude that in a young patient a thorough investigation for heart failure is never complete without looking for endocrine and metabolic causes. The prognosis in these cases is much better, identification and treatment of the same will yield dramatic results.

Miocardiopatía hipoclacémica secundaria a hipoparatiroidismo postiroidectomía: Caso clínico / Hypocalcemic cardiomyopathy secondary to hypoparathyroidism after a thyroidectomy: Report of one case

Calcium plays a central role in ventricular function. We report a 37 year-old woman with chronic hypoparathyroidism and hypocalcemia secondary to a thyroidectomy performed when she was 18 years old, as treatment for a Graves Basedow's disease. She did not have previous cardiac symptoms and rapid progressive congestive heart failure developed after the beginning of levothyroxin supplementation for post operative hypothyroidism. Echocardiography revealed severe systolic and diastolic left ventricular dysfunction, mitral and tricuspid valve insufficiency, systolic pulmonary hypertension, left atrial enlargement and pericardial effusion. Calcium supplementation in addition to diuretics, captopril and digoxin were followed by rapid clinical improvement. Follow up until 18 months showed persistent left ventricular dilatation and systolic dysfunction, with improvement of all the other ecocardiographic findings.

Calcificações cerebrais por hipoparatireoidismo: considerações sobre o diagnóstico, longo tempo após a tireoidectomia / Cerebral calcifications due to hypoparathyroidism: considerations about cases diagnosed many years after parcial thyroidectomy / Cerebral calcifications due to hypoparathyroidism: considerations about cases diagnosed many years after parcial thyroidectomy

Hipoparatireoidismo com manifestações neurológicas diagnosticado muitos anos após a cirurgia de tireóide é considerado uma raridade. Descrevemos neste trabalho 3 casos de hipoparatireoidismo associado a calcificações estrio-pálido-denteadas diagnosticados de 20 a mais de 40 anos após tireoidectomia parcial. Duas pacientes foram admitidas com quadros convulsivos em Serviços de Emergência, provavelmente secundário à hipocalcemia, sem diagnóstico de hipoparatireoidismo, o qual foi suspeitado a partir dos exames bioquímicos e da presença de cicatriz cirúrgica no pescoço. A tomografia computadorizada de crânio demonstrou extensas calcificações cerebrais em ambos os casos. A terceira paciente não apresentava quadro neurológico relacionado à hipocalcemia ou às calcificações de gânglios da base e cerebelo demonstradas pela tomografia. Todas foram tratadas com cálcio e vitamina D, com importante melhora clínica nos dois casos sintomáticos. Trata-se, somando-se uma publicação anterior, de 4 casos semelhantes provenientes da mesma região, que era considerada carente em iodo alimentar (Triângulo Mineiro e Goiás, Brasil), onde as tireoidectomias eram muito comuns e provavelmente sem um seguimento clínico adequado. Suspeitamos que outros casos similares, não detectados, possam existir atualmente.

The diagnosis of hypoparathyroidism with neurological findings occurring years after thyroid surgery is considered to be rare. The authors describe 3 cases of hypoparathyroidism associated to brain calcifications diagnosed many years after partial thyroidectomy. Two patients were admitted to Emergency Services presenting with seizures, without a previous diagnosis of hypoparathyroidism. The diagnosis was suspected adding the biochemical analysis to the scar on the neck. The CT, which was performed more than 20 years after surgery, showed large cerebral calcifications in both cases. The third patient did not have neurological symptoms, but presented basal and cerebelar calcifications that were demonstrated in the CT. All patients were treated with calcium and vitamin D with great improvement of clinical status. Adding to a case published previously, we count 4 cases from the same region. Thyroidectomies were very common in this region poor in dietary iodide. Since the clinical follow up was inadequate, we suspect that undetected cases similar to these may exist in the present moment.

The calcium-sensing receptor and related diseases / O receptor sensor de cálcio e doenças associadas

The calcium-sensing receptor (CASR) adjusts the extracellular calcium set point regulating PTH secretion and renal calcium excretion. The receptor is expressed in several tissues and is also involved in other cellular functions such as proliferation, differentiation and other hormonal secretion. High extracellular calcium levels activate the receptor resulting in modulation of several signaling pathways depending on the target tissues. Mutations in the CASR gene can result in gain or loss of receptor function. Gain of function mutations are associated to Autossomal dominant hypocalcemia and Bartter syndrome type V, while loss of function mutations are associated to Familial hypocalciuric hypercalcemia and Neonatal severe hyperparathyroidism. More than one hundred mutations were described in this gene. In addition to calcium, the receptor also interacts with several ions and polyamines. The CASR is a potential therapeutic target to treatment of diseases including hyperparathyroidism and osteoporosis, since its interaction with pharmacological compounds results in modulation of PTH secretion.

O receptor sensor de cálcio (CASR) ajusta o set point do cálcio extracelular através da regulação da secreção de PTH e da excreção renal de cálcio. O receptor é expresso em diversos tecidos e também está envolvido em outras funções celulares como proliferação, diferenciação e secreção de outros hormônios. Concentrações altas de cálcio extracelular ativam o receptor resultando em modulação de inúmeras vias de sinais intracelulares dependendo do tecido-alvo. Mutações no gene do CASR podem resultar em ganho ou perda de função do receptor. Mutações com ganho de função são associadas à Hipocalcemia autossômica dominante e à Síndrome de Bartter tipo V, enquanto que mutações com perda de função são associadas à Hipercalcemia hipocalciúrica familiar e ao Hiperparatireoidismo neonatal grave. Mais de cem mutações foram descritas neste gene. Além do cálcio, o receptor também interage com inúmeros íons e poliaminas. CASR é um alvo terapêutico potencial para tratamento de doenças incluindo hiperparatireoidismo e osteoporose, pois a sua interação com compostos farmacológicos resulta em modulação da secreção de PTH.

Establecimiento de la primera línea celular de paratoroides humana / Establishment of first cell line of human parathyroid

Para el manejo de pacientes con hipoparatiroidismo postquirúrgico se ha intentado el transplante de células de paratiroides humanas. Los problemas para este eventual tratamiento han sido mantener cultivos duraderos a largo plazo y mantener cultivos con función endrocina normal. Existe un método de inmortalización celular, descrito por Caviedes y cols. que permite mantener células humanas con la capacidad de proliferar sin perder sus funciones de células diferenciadas. Con este método de inmortalización se logrará establecer una línea celular continua de paratiroides humana con función endrocina normal a largo plazo: esta última definida como la capacidad de respuesta secretoria normal de paratohormona (PTH), frente a distintas concentraciones de calcio extracelular. En este artículo se presenta el procedimiento y sus resultados in vitro.

For the handling of patients with postsurgical hypoparathyroidism, the trasplant of cells of human parathyroid has been tried. The difficulties to establish this type of cultures have been to maintain cultures lasting in the term and to maintain cultures with normal endocrin function. A method of cellular inmortalization, described by Caviedes et al. exists that allow to maintain human parathyroid cells with the capacity to proliferate without losing their differentiated functions. With this method of inmortalization it will be managed in the long term to establish a continuous parathyroid cellular line with normal endocrinal function, defined as the capacity of normal secretion of paratohormona (PTH), as opposed to different extracellular calcium concentrations. We present de procedure and its in vitro results.