RESUMO
Introducción. El hipoparatiroidismo es una enfermedad caracterizada por la ausencia o concentraciones inadecuadamente bajas de hormona paratiroidea (PTH), que conduce a hipocalcemia, hiperfosfatemia y excreción fraccional elevada de calcio en la orina. Las calcificaciones del sistema nervioso central son un hallazgo frecuente en estos pacientes. Caso clínico. Mujer de 56 años con antecedente de hipotiroidismo, que ingresó por un cuadro de 6 días de evolución caracterizado por astenia, parestesias periorales y movimientos anormales de manos y pies. Las pruebas de laboratorio demostraron hipocalcemia, hiperfosfatemia y niveles bajos de hormona paratiroidea. Se realizó una tomografía computarizada de cráneo que mostró áreas bilaterales y simétricas de calcificaciones en hemisferios cerebelosos, ganglios basales y corona radiata. No se evidenciaron trastornos en el metabolismo del cobre y hierro. Se estableció el diagnóstico del síndrome de Fahr secundario a hipoparatiroidismo y se inició tratamiento con suplementos de calcio y vitamina D con evolución satisfactoria. Discusión. El síndrome de Fahr es un trastorno neurológico caracterizado por el depósito anormal de calcio en áreas del cerebro que controlan la actividad motora. Se asocia a varias enfermedades, especialmente, hipoparatiroidismo. La suplementación con calcio y vitamina D con el objetivo de normalizar los niveles plasmáticos de estos cationes es el tratamiento convencional. (AU)
Introduction. Hypoparathyroidism is a disease characterized by absence or inappropriately low concentrations of circulating parathyroid hormone, leading to hypocalcaemia, hyperphosphataemia and elevated fractional excretion of calcium in the urine. Central nervous system calcifications are a common finding in these patients. Case report. 56-year-old woman with a history of hypothyroidism who was admitted for a 6-day course of illness characterized by asthenia, perioral paresthesias, and abnormal movements of the hands and feet. Laboratory tests showed hypocalcemia, hyperphosphatemia, and low parathyroid hormone levels. A cranial computed tomography was performed. It showed bilateral and symmetrical areas of calcifications in the cerebellar hemispheres, basal ganglia, and radiata crown. No disorders of copper or iron metabolism were evident. The diagnosis of Fahr syndrome secondary to hypoparathyroidism was established and treatment with calcium and vitamin D supplements was started with satisfactory evolution. Discussion. Fahr's syndrome is a neurological disorder associated with abnormal calcium deposition in areas of the brain that control motor activity. It is associated with various diseases, especially hypoparathyroidism. The conventional treatment is supplementation with calcium and vitamin D, with the aim of normalizing their plasma levels. (AU)
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Calcinose/diagnóstico por imagem , Hipoparatireoidismo/diagnóstico , Doenças do Sistema Nervoso/diagnóstico por imagem , Hormônio Paratireóideo/sangue , Calcinose/complicações , Calcinose/tratamento farmacológico , Calcitriol/administração & dosagem , Carbonato de Cálcio/administração & dosagem , Gluconato de Cálcio/administração & dosagem , Cálcio/administração & dosagem , Hiperfosfatemia/sangue , Hipocalcemia/sangue , Hipoparatireoidismo/etiologia , Hipoparatireoidismo/tratamento farmacológico , Doenças do Sistema Nervoso/complicações , Doenças do Sistema Nervoso/tratamento farmacológicoRESUMO
RESUMEN Las displasias ectodérmicas constituyen alteraciones de los derivados embriológicos del ectodermo. Paciente adulta, con hipoparatiroidismo, llamó la atención por su fenotipo y fue remitida de la consulta de Neurología a la consulta Genética. Se diagnosticó una displasia ectodérmica hipohidrótica, de origen genético con herencia autosómica dominante, poco común para esta entidad. Se presenta este caso con el objetivo de describir las manifestaciones clínicas de esta alteración genética, las cuales nunca fueron objeto de interés médico resultando inadvertidas para su estudio y diagnóstico. Esta alteración se asocia a una condición patológica como el hipoparatiroidismo, en la literatura revisada no se encontraron reportes de la misma. La evaluación clínica de la paciente permitió hacer el diagnóstico y explicar muchos de los problemas para los cuales no existían respuestas, así como ofrecer un asesoramiento genético adecuado para ella y para sus familiares con riesgo de padecer una condición genética similar.
ABSTRACT Ectodermic dysplasias are alterations of the ectoderm embryologic derivatives. This is a case of an adult female patient with hypoparathyroidism, drawing attention due to her phenotype; she was remitted by the consultation of Neurology to the Genetic one. She was diagnosed a hypohidrotic ectodermal dysplasia, of genetic origin with autosomal dominant inheritance, what is very rare for this entity. The case is presented with the aim of describing the clinical manifestation of this genetic alteration that never drew medical interest and nobody diagnosed or studied. It is associated to a pathologic condition like hypothyroidism and was not reported in medical literature before. The clinical evaluation of the patient allowed arriving to the diagnostic and explaining many problems that were unexplained, and also offering the adequate genetic advice to her and her relatives likewise at risk of suffering a similar genetic condition.
Assuntos
Humanos , Feminino , Adulto , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/etiologia , Displasia Ectodérmica/genética , Displasia Ectodérmica/tratamento farmacológico , Displasia Ectodérmica/epidemiologia , Aconselhamento Genético , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/etiologia , Qualidade de Vida , Ceratodermia Palmar e Plantar/diagnóstico , Ceratodermia Palmar e Plantar/etiologiaRESUMO
ABSTRACT Objective To present an update on the diagnosis and treatment of hypoparathyroidism based on the most recent scientific evidence. Materials and methods The Department of Bone and Mineral Metabolism of the Sociedade Brasileira de Endocrinologia e Metabologia (SBEM; Brazilian Society of Endocrinology and Metabolism) was invited to prepare a document following the rules set by the Guidelines Program of the Associação Médica Brasileira (AMB; Brazilian Medical Association). Relevant papers were retrieved from the databases MEDLINE/PubMed, LILACS, and SciELO, and the evidence derived from each article was classified into recommendation levels according to scientific strength and study type. Conclusion An update on the recent scientific literature addressing hypoparathyroidism is presented to serve as a basis for the diagnosis and treatment of this condition in Brazil.
Assuntos
Humanos , Medicina Baseada em Evidências , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/tratamento farmacológico , Sociedades Médicas , Brasil , Hipoparatireoidismo/etiologiaRESUMO
Se presenta una paciente que, en la sexta década de su vida, debuta con episodios de espasmo carpopedal espontáneo. Los valores bajos de calcemia (6,1 mg/dl) y de PTH (8 pg/ml) confirmaron el diagnóstico de hipoparatiroidismo. No había sido sometida a cirugías de cuello ni radioterapia. No existían antecedentes familiares vinculantes. Durante 11 años de seguimiento, la paciente presenta asociación con otras patologías que permiten sospechar la etiología autoinmune del hipoparatiroidismo: candidiasis de piel y uñas, hipotiroidismo por tiroiditis de Hashimoto, penfigoide y psoriasis. Finalmente fallece por una neumonía adquirida en la comunidad, complicada. (AU)
A patient who develops hypoparathyroidism during her sixth decade of life is reported. It was detected due to spontaneous carpopedal spasms. Low calcium (6.1 mg/dl) and PTH (8 pg/ml) levels confirmed the diagnosis. She had not undergone neck surgery or irradiation. There was no relevant family history. Throughout the 11 years follow up she presented association of other pathologies that allow the suspicion of autoimmune etiology of hypoparathyroidism: candidiasis of skin and nails, autoimmune thyroiditis, pemphigoid and psoriasis. She eventually died of complicated community-acquired pneumonia. (AU)
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Doenças Autoimunes/complicações , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/etiologia , Hormônio Paratireóideo/sangue , Fluconazol/administração & dosagem , Cálcio/sangue , Fatores Etários , Poliendocrinopatias Autoimunes/diagnóstico , Poliendocrinopatias Autoimunes/tratamento farmacológico , Corticosteroides/uso terapêutico , Progressão da Doença , Hipoparatireoidismo/tratamento farmacológicoRESUMO
ObjectiveThe aim of the present study was to identify a fast, efficient and low-cost method to diagnose hypoparathyroidism after total thyroidectomy.Materials and methodsOne hundred and forty medical records, which contained patients’ clinical and laboratory data, were retrospectively analyzed. Patient parathyroid hormone values, which were obtained immediately following operation, were compared with their ionized calcium levels the morning after surgery. This comparison was used to examine the correlation between the two variables in predicting hypoparathyroidism because measuring calcium levels is low-cost and more available in the hospitals compared to measuring parathormone (PTH) levels.ResultsThere was a positive and statistically significant correlation between PTH and ionized calcium values (Pearson correlation coefficient, r = 0.456; p < 0.0001). The values of first postoperative day ionized calcium levels (stratified by the 1.10 mmol/l cut-off value) were tested as a diagnostic measure for hypoparathyroidism, and a PTH < 15 pg/mL obtained immediately following operation served as a reference. This analysis showed that ionized calcium levels measured on the first postoperative day had a sensitivity of 45.6% (95% CI 30.9-61.0%), a specificity of 88.9% (95% CI 80.5-94.5%) and an accuracy of 76.7% (95% CI 68.7-83.5%) as a diagnostic measure for hypoparathyroidism.ConclusionIn conclusion, we demonstrated that patients who had high ionized calcium levels on the first postoperative day also had high PTH levels immediately following operation and, therefore, they had lower rates of hypoparathyroidism.
Assuntos
Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Cálcio/sangue , Hipoparatireoidismo/diagnóstico , Complicações Pós-Operatórias/etiologia , Tireoidectomia/efeitos adversos , Hipocalcemia/prevenção & controle , Hipoparatireoidismo/sangue , Hipoparatireoidismo/etiologia , Período Pós-Operatório , Hormônio Paratireóideo/sangue , Estudos Retrospectivos , Sensibilidade e Especificidade , Fatores de TempoRESUMO
Primary hypoparathyroidism is an uncommon endocrinopathy in dogs, resulting from absolute or relative deficiency in the secretion of parathormone (PTH). The dog presented signs of hypocalcemia, including muscular spasms, tetany and cramps, evolving to tonic-clonic seizures and fever. Emergency therapy for hypocalcemia included glucose physiological solution at 0.45% and calcium gluconate administered intravenously. Diagnosis was confirmed by the presence of hypocalcemia, hyperphosphatemia and a decrease in parathormone (PTH).(AU)
O hipoparatireoidismo primário é uma endocrinopatia incomum em cães, resultante da deficiência absoluta ou relativa na secreção do paratormônio (PTH). O cão apresentava sinais de hipocalcemia, incluindo espasmos musculares, tetania e cãibras que evoluíram para convulsões tônico-clônicas e febre. A terapia de emergência para hipocalcemia incluiu solução glicofisiológica 0,45% e gluconato de cálcio por intravenosa. O diagnóstico foi confirmado pela presença de hipocalcemia, hiperfosfatemia e diminuição do paratormônio (PTH).(AU)
Assuntos
Animais , Cães , Proteína Relacionada ao Hormônio Paratireóideo/análise , Hiperfosfatemia/veterinária , Hipocalcemia/veterinária , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/veterináriaAssuntos
Humanos , Protocolos Clínicos/normas , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/tratamento farmacológico , Vitamina D/administração & dosagem , Calcitriol/administração & dosagem , Carbonato de Cálcio/administração & dosagem , Continuidade da Assistência ao Paciente , Combinação de MedicamentosRESUMO
Isolated hypoparathyroidism (IH) shows heterogeneous phenotypes and can be caused by defects in a variety of genes. The goal of our study was to determine the clinical features and to analyze gene mutations in a large cohort of Korean patients with sporadic or familial IH. We recruited 23 patients. They showed a broad range of onset age and various values of biochemical data. Whole exome sequencing was performed on two affected cases and one unaffected individual in a family. All coding exons and exon-intron borders of GCMB, CASR, and prepro-PTH were sequenced using PCR-amplified DNA. In one family who underwent the whole exome sequencing analysis, approximately 300 single nucleotide changes emerged as candidates for genetic alteration. Among them, we identified a functional mutation in exon 2 of GCMB (C106R) in two affected cases. Besides, heterozygous gain-of-function mutations in the CASR gene were found in other subjects; D410E and P221L. We also found one single nucleotide polymorphism (SNP) in the prepro-PTH gene, five SNPs in the CASR gene, and four SNPs in the GCMB gene. The current study represents a variety of biochemical phenotypes in IH patients with the molecular genetic diagnosis of IH.
Assuntos
Adulto , Idoso , Humanos , Pessoa de Meia-Idade , Adulto Jovem , Povo Asiático/genética , Estudos de Coortes , Heterozigoto , Hipoparatireoidismo/diagnóstico , Proteínas Nucleares/genética , Hormônio Paratireóideo/genética , Fenótipo , Polimorfismo de Nucleotídeo Único , Receptores de Detecção de Cálcio/genética , Sistema de Registros , República da Coreia , Fatores de Transcrição/genéticaRESUMO
Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp [155-166 del] deletion within the tubulin-specific chaperone E [TBCE gene] in exon 3 at lq42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental consanguinity was recorded in all families. This is the first genetically proven case series of Sanjad Sakati syndrome in Jordan
Assuntos
Humanos , Masculino , Feminino , Anormalidades Múltiplas/genética , Transtornos do Crescimento/diagnóstico , Hipoparatireoidismo/diagnóstico , Deficiência Intelectual/diagnóstico , Convulsões/diagnóstico , Síndrome , Árabes , ConsanguinidadeRESUMO
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.
Assuntos
Humanos , Feminino , Adulto , Gânglios da Base , Calcinose , Encefalopatias/etiologia , Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Manifestações Neurológicas , Transtornos do Humor , Transtornos Motores , Tomografia Computadorizada por Raios XRESUMO
The thalassemic syndromes are geneticaly structural disturbance of alpha and beta globin chains. In major beta -thalassemia the life expectancy depended on frequent blood transfusions that lead to over storage and deposition of Iron in different body-organs [Hemochromatosis] including parathyroid glands, which may cause hupoparathyroidism. This study was done to evaluate the frequency of hypoparathyroidism in thalassemic patients referred to teaching hospitals in Hamedan - Iran. This descriptive, cross-sectional study was done on 56 thalassemic patients, which received blood transfusion. Serum Ca, P, PTH, total protein, albumin, Ferritin and BUN cratinine were checked two weeks after last transfusion. The hypoparathyroidism was defined when calcium was less than 8mg/dl and phosphorus more than 5.5mg/dl and PTH less than 10ng/dl. In this study, 14.2% of patients had hypoparathyroidism. 37.5% of hypoparathyroid ones had clinical manifestation of hypocalcemia. There were statistically meaningful association [P < 0.05] between The hypoparathyroidism with desferal administration, splenectomy and diabetes. This study showed that the frequency of hypoparathyroidism in Beta-thalassemic patients receiving blood transfusion was relatively high, so clinical and labratory evaluation for endocrine glands specially parathyroid is recommended since early second decay of life
Assuntos
Humanos , Hipoparatireoidismo/diagnóstico , Talassemia beta , Hemocromatose , Transfusão de Sangue , Hormônio Paratireóideo , Hipocalcemia , Estudos TransversaisRESUMO
Myelofibrosis occurring both in childhood and adulthood is most commonly idiopathic, followed by neoplastic infiltration of the bone marrow. We are reporting an extremely rare association of idiopathic hypoparathyroidism associated with stable secondary myelofibrosis.
Assuntos
Adulto , Feminino , Humanos , Hipoparatireoidismo/diagnóstico , Mielofibrose Primária/etiologiaRESUMO
The principal function of the parathyroid hormone (PTH) is maintenance of calcium plasmatic levels, withdrawing the calcium from bone tissue, reabsorbing it from the glomerular filtrate, and indirectly increasing its intestinal absorption by stimulating active vitamin D (calcitriol) production. Additionally, the PTH prompts an increase in urinary excretion of phosphorus and bicarbonate, seeking a larger quantity of free calcium available in circulation. Two mechanisms may alter its function, limiting its control on calcium: insufficient PTH production by the parathyroids (hypoparathyroidism), or a resistance against its action in target tissues (pseudohypoparathyroidism). In both cases, there are significantly reduced levels of plasmatic calcium associated with hyperphosphatemia. Clinical cases are characterized by nervous hyperexcitability, with paresthesia, cramps, tetany, hyperreflexia, convulsions, and tetanic crisis. Abnormalities such as cataracts and basal ganglia calcification are also typical of these diseases. Treatment consists of oral calcium supplementation associated with increased doses of vitamin D derivatives.
A principal função do paratormônio (PTH) é a manutenção dos níveis plasmáticos de cálcio, retirando-o do tecido ósseo, reabsorvendo-o do filtrado glomerular e, indiretamente, aumentando sua absorção intestinal através do estímulo para a produção de vitamina D ativa (calcitriol). Além disso, o PTH promove um aumento na excreção urinária de fósforo e bicarbonato, objetivando uma maior quantidade de cálcio livre disponível na circulação. Dois mecanismos podem alterar sua função, limitando seu controle sobre o cálcio: produção insuficiente de PTH pelas paratiróides (hipoparatiroidismo), ou uma resistência à sua ação nos órgãos-alvo (pseudohipoparatiroidismo). Em ambos os casos, ocorre uma redução significativa dos níveis plasmáticos de cálcio em associação com hiperfosfatemia. Manifestações clínicas características são: hiperexcitabilidade nervosa, com parestesia, cãimbras, tetania, hiperreflexia, convulsões e crise tetânica. Catarata e calcificação dos gânglios basais são anormalidades típicas dessas doenças. O tratamento consiste da suplementação oral de cálcio, associada com doses elevadas de derivados da vitamina D.
Assuntos
Humanos , Hipoparatireoidismo/diagnóstico , Hormônio Paratireóideo/sangue , Pseudo-Hipoparatireoidismo/diagnóstico , Calcitriol/sangue , Cálcio da Dieta/administração & dosagem , Cálcio/sangue , Hipocalcemia/sangue , Hipocalcemia/diagnóstico , Hipoparatireoidismo/sangue , Hipoparatireoidismo/tratamento farmacológico , Fósforo/sangue , Pseudo-Hipoparatireoidismo/sangue , Pseudo-Hipoparatireoidismo/tratamento farmacológico , Vitamina D/sangue , Vitamina D/uso terapêuticoRESUMO
Magnesium deficiency is a common clinical problem. Dietary malabsorption and renal wasting are the commonest causes. Hypomagnesemia induces a state of functional hypoparathyroidism due to decreased secretion of parathormone (PTH) as well as resistance to its action. Contrary to typical autoimmune hypoparathyroidism, it is associated with decreased levels of serum phosphate. We report a patient who presented with hypocalcemic tetany associated with hypomagnesaemia due to renal wasting. Subsequently, he improved with magnesium supplementation of therapy.
Assuntos
Diagnóstico Diferencial , Humanos , Hipoparatireoidismo/diagnóstico , Magnésio/sangue , Masculino , Pessoa de Meia-IdadeRESUMO
RESUMEN Las convulsiones son un trastorno frecuente en pediatría y se producen en 3 menos 5 por ciento de los niños. Las causas son diversas y entre ellas se hallan las deorden metabólico. Presentamos una paciente de 11 meses, derivada de Santa Rosa, La Pampa, por estadoconvulsivo en estudio. Ingresó medicada con tresanticonvulsivantes y ceftriaxona más aciclovir, conelectroencefalograma y resonancia magnética decerebro normales. Al examen físico presentaba hipoplasiade esmalte dental, palidez y ligera hipertoníade miembros inferiores. Los exámenes de laboratorioal ingreso demostraron anemia normocíticanormocrómica, hipoglucemia, hipocalcemia, hiperfosfatemiay niveles bajos de PTH. Ecografía cerebral:calcificaciones talámicas bilaterales y electrocardiogramacon QT prolongado. Con diagnóstico de hipoparatiroidismo primario, se inició tratamientocon gluconato de calcio endovenoso, carbonato decalcio como quelante del fósforo y 1, 25 dihidroxicolecalciferol(calcitriol), 25 mcg/día. Se realizaronestudios para detectar otras deficiencias glandulares.Queremos destacar la importancia de recordarestas causas infrecuentes de síndrome convulsivopara instaurar un tratamiento precoz y así evitarcomplicaciones y secuelas.Palabras clave: hipoparatiroidismo, convulsiones
Assuntos
Lactente , Hipoparatireoidismo , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/etiologia , Convulsões , UltrassonografiaRESUMO
A 50- year-old white woman was admitted because of extensive eruptive skin and mucosal lesions and nail involvement associated with fatigue and pallor of two weeks duration. She had a history of thyroidectomy and hypocalcemic crisis. Generalized pustular psoriasis [GPP] was confirmed by biopsy. She also had nail hyperkeratosis associated with paronychia, palpable axillary lymphadenopathy, positive Chvostek's sign, bilateral cataracts and fever. 48 hours after calcium infusion her fever and other symptoms improved. Skin, mucosal and nail lesions also gradually subsided. We concluded that serum calcium should be evaluated in all cases of GPP
Assuntos
Humanos , Feminino , Hipoparatireoidismo/diagnóstico , Hipocalcemia/etiologiaRESUMO
A child with extreme growth failure, dysmorphic features, hypoparathyroidism, and abnormal skeletal survey was studied. He was a product of first degree consaguineous marriage who had intrauterine growth retardation and presented at 14 days of age with hypocalcemic tetany with normal cardiovascular system and immune function. Endocrine evaluation after infancy revealed defective growth hormone (GH) secretion in 2 provocation tests and lack of clinical and testosterone response to human chorionic gonadotrophin (HCG) therapy.