Hiperparatiroidismo primario asintomático en mujeres / Asymptomatic primary hyperparathyroidism in women

El hiperparatiroidismo primario puede tener diferentes características. Una de ellas es la forma asintomática. Esta es una variante leve del hiperparatiroidismo primario hipercalcémico, que se caracteriza por una calcemia no mayor a 1 mg/dl sobre el límite superior del método, hormona paratiroidea intacta (PTHi) elevada, ausencia de litiasis renal, deterioro de la función renal y de osteoporosis, edad menor de 50 años, y calciuria menor a 400 mg/día. No es una entidad quirúrgica, pero en su evolución puede llegar a serlo. Se estudiaron 24 mujeres postmenopáusicas, todas mayores de 50 años, con diagnóstico de hiperparatiroidismo asintomático, se describieron las manifestaciones clínicas, los cambios densitométricos, los parámetros bioquímicos y del remodelado óseo y se compararon los resultados con las variantes clásica y normocalcémica de la enfermedad. Se establecieron los criterios diagnósticos y se observó que solo 2 (8.3%) de las pacientes, durante un seguimiento de 44 ± 12 meses tuvo necesidad de paratiroidectomía. En definitiva, el hiperparatiroidismo primario asintomático es una alteración benigna, de seguimiento clínico periódico que, en pocas ocasiones, durante el seguimiento puede requerir cirugía.

Primary hyperparathyroidism may have different characteristics. One is the asymptomatic form. This is a mild variant of hypercalcemic hyperparathyroidism, characterized by a calcemia not greater than 1 mg/dl above the upper limit of the method, a high intact parathyroid hormone (iPTH), absence of renal stones, renal function impairement, and osteoporosis, less than 50 years of age, and less than 400 mg/day calciuria. It is not a surgical entity, but its evolution may require it. Twenty-four postmenopausal women, all older than 50 years, with a diagnosis of asymptomatic hyperparathyroidism, were studied. Clinical manifestations, densitometric changes, biochemical parameters and bone remodeling were analyzed and the results were compared with the classic and normocalcemic variants of the disease. Diagnostic criteria were established and observed that only 2 (8.3%) of patients, during a follow up of 44 ± 12 months, had need for a parathyroidectomy. In conclusion, the asymptomatic primary hyperparathyroidism is a benign disorder, of periodic clinical follow-up, which rarely may require surgery.

Hipercalcemia hipocalciurica familiar en una paciente con mutación del receptor de calcio: forma atípica de presentación y tratamiento con cinacalcet / Familial hypocalciuric hypercalcemia in a patient with calcium-sensing receptor mutation: atypical clinical presentation and treatment with cinacalcet

El hiperparatiroidismo familiar y la hipercalcemia hipocalciúrica familiar (HHF) constituyen un subgrupo heterogéneo de trastornos con herencia mendeliana, que representan en conjunto el 5% de las causas de hipercalcemia PTH dependiente. La HHF se asocia con mutaciones del gen del receptor sensor de calcio (CaSR). Esta entidad se manifiesta, en la mayoría de los casos, con la presentación asintomática y familiar de hipercalcemia e hipocalciuria y valores elevados o normales de hormona paratiroidea (PTH). Los avances en la biología molecular han contribuido al diagnóstico, evaluación del fenotipo de cada entidad y elección del tratamiento. Se describe el caso de una paciente con hipercalcemia estudiada a partir de una tumoración de cuello asociada con una glándula paratiroides quística. Luego de un exhaustivo proceso diagnóstico se halló en el estudio genético una mutación inactivante en el gen CaSR. Teniendo en cuenta la presencia de la relación clearance calcio/clearance creatinina <0,01 y la falta de respuesta al tratamiento quirúrgico, se consideró la entidad de HHF con forma de presentación atípica. La paciente, sin tratamiento, presentaba un progresivo incremento de la calcemia luego de la cirugía de las glándulas paratiroides, que no se controló con el uso de bifosfonatos y evolucionó con episodios de mareos y desmayos frecuentes sin causa neurológica o cardiovascular detectada. Por lo tanto, se inició el tratamiento con cinacalcet, con el cual se obtuvo una buena respuesta terapéutica: descenso de la calcemia y mejoría de la sintomatología luego de un año de su comienzo. El cinacalcet es una herramienta terapéutica de importancia en estos raros casos de HHF. (AU)

Familial hyperparathyroidism including familial hypocalciuric hypercalcemia (FHH) is an heterogeneous subgroup of disorders with Mendelian inheritance, that account for 5% of PTH dependent hypercalcemia. FHH is associated with mutations of the calcium receptor (CaSR) gene. This entity is manifested by hypercalcemia with hypocalciuria and high or normal levels of parathyroid hormone (PTH) generally asymptomatic and with familial presentation. Advances in molecular biology have contributed to the diagnosis, evaluation of the phenotype of each entity and the choice of treatment. We describe a patient with hypercalcemia diagnosed following the finding of a neck tumor associated with cystic parathyroids. After an exhaustive diagnostic process, an inactivating mutation in the CaSR gene was found. Considering the presence of a ratio clearance calcium / clearance creatinine <0.01 and the lack of response to surgical treatment, HHF entity with atypical presentation was considered. The patient exhibited progressive increase in serum calcium following parathyroid surgery, which was not controlled with the use of bisphosphonates and evolved into episodes of frequent dizziness and fainting, without neurological or cardiovascular causes. Treatment with cinacalcet was initiated, with a good therapeutic response. The use of cinacalcet is a useful therapeutic tool in these rare cases of FHH. (AU)

Avaliação da hipercalcemia assintomática em pacientes ambulatoriais / Assessment of asymptomatic hypercalcemia in outpatients

Introdução: Dosagens indiscriminadas de cálcio sérico podem levar à detecção de pacientes assintomáticos, com hipercalcemia, em que o hiperparatireoidismo primário é a causa mais comum. Objetivo: Discutir aforma de avaliação da hipercalcemia detectada em população atendida em regime ambulatorial, avaliando a sua freqüência, com ênfase na pesquisa de hiperparatireoidismo primário. Material e métodos: Foi realizado estudo prospectivo envolvendo 1.049 indivíduos, de 40 a 60 anos, com dosagens séricas de cálcio e albumina, e calculado o valor de cálcio corrigido. Na presença de elevação do cálcio corrigido,foram dosados cálcio iônico, fósforo, paratormônio (PTH) e calciúria. Resultados: A idade foi 49,7 ± 13,7anos e 188 (17,9%) indivíduos apresentaram valores elevados de cálcio corrigido. Desses, 90 pacientescompareceram à segunda avaliação e 19 (2%) mantiveram quadro de hipercalcemia. Os níveis de cálcio iônico (média: 1,2 ± 0,01 mmol/l) foram normais em todos os indivíduos. A calciúria foi 185,8 ± 111,8 mg/24 horas. Os níveis de PTH (média: 46 ± 11,8 pg/ml) foram elevados em três casos, com cintilografia de paratireóides normal. Discussão: A queda na freqüência de hipercalcemia com base novalor do cálcio corrigido e, sobretudo, após dosagem de cálcio ionizável sugere que a dosagem de cálcio livre seja preferida como triagem. Na população estudada não foi diagnosticado hiperparatireoidismo, sugerindo distribuição variável da doença em diferentes populações. Conclusão: Deve ser questionada a dosagem rotineira de cálcio sérico em indivíduos sem quadro clínico que indique a necessidade darealização desse exame. Quando realizada, a dosagem de cálcio iônico deverá ser preferida.

Introduction: Indiscriminate serum calcium measurement may lead to the identification of asymptomatic patientswith hypercalcaemia, which is caused mostly by primary hyperparathyroidism. Objective: To discuss the frequencyof hypercalcaemia and the type of assessment of this condition in an outpatient population, with emphasis on the investigation of primary hyperparathyroidism. Material and methods: In a prospective study 1,049 subjects (age range: 40 to 60 years old) underwent serum calcium and albumin determination and the corrected calcium values were calculated. When there was a rise in the corrected calcium level, ionized calcium, phosphate, parathyroid hormone (PTH) and urinary calcium were measured. Results: The average age was 49.7 ± 13.7 years old, and 188 subjects (17.9%) had elevated corrected calcium levels. Among these, 90 patients underwent the second investigation and 19 (2%) remained hypercalcemic. Ionized calcium levels (average: 1.2 ± 0.01 mmol/L) werenormal in all subjects. Urinary calcium was 185.8 ± 111.8 mg/24 hours. PTH levels (average: 46 ± 11.8 pg/mL)were elevated in three subjects whose parathyroid scintigraphies were normal. Discussion: The fall in the frequencyof hypercalcaemia based on corrected serum calcium levels and mostly after determination of serum ionized calciumsuggests that determinations of serum free calcium are a better screening test. No subject was diagnosed with hyperparathyroidism, what suggests an uneven distribution of the disease in different populations. Conclusion:Routine serum calcium determinations in asymptomatic patients must be questioned. When serum calcium determination is thought necessary, ionized calcium levels should be favored.

Metabolic assessment in patients with urinary lithiasis

INTRODUCTION: Metabolic investigation in patients with urinary lithiasis is very important for preventing recurrence of disease. The objective of this work was to diagnose and to determine the prevalence of metabolic disorders, to assess the quality of the water consumed and volume of diuresis as potential risk factors for this pathology. PATIENTS AND METHODS: We studied 182 patients older than 12 years. We included patients with history and/or imaging tests confirming at least 2 stones, with creatinine clearance > 60 mL/min and negative urine culture. The protocol consisted in the collection of 2, 24-hour urine samples, for dosing Ca, P, uric acid, Na, K, Mg, Ox and Ci, glycemia and serum levels of Ca, P, Uric acid, Na, K, Cl, Mg, U and Cr, urinary pH and urinary acidification test. RESULTS: 158 patients fulfilled the inclusion criteria. Among these, 151 (95.5 percent) presented metabolic changes, with 94 (62.2 percent) presenting isolated metabolic change and 57 (37.8 percent) had mixed changes. The main disorders detected were hypercalciuria (74 percent), hypocitraturia (37.3 percent), hyperoxaluria (24.1 percent), hypomagnesuria (21 percent), hyperuricosuria (20.2 percent), primary hyperparathyroidism (1.8 percent) secondary hyperparathyroidism (0.6 percent) and renal tubular acidosis (0.6). CONCLUSION: Metabolic change was diagnosed in 95.5 percent of patients. These results warrant the metabolic study and follow-up in patients with recurrent lithiasis in order to decrease the recurrence rate through specific treatments, modification in alimentary and behavioral habits.

Síndromes paraneoplásicas: revisäo / Paraneoplastic syndromes: a review

As síndromes paraneoplásicas sao sinais e sintomas presentes em pacientes com câncer, distantes do tumor ou de suas metástases, e que nao sao causados por invasao, obstruçao ou efeito de massa. Representam um conjunto de manifestaçoes extremamente complexas, podendo envolver vários sistemas da economia humana. Dentre eles citam-se o hematológico, dermatológico, neurológico, endócrimo e osteomuscular. O autor apresenta uma revisao, dando ênfase especial às síndromes paraneoplásicas neurológicas e à hipercalcemia relacionada aos tumores.

Hipercalciuria / Hypercalciuria

Se realiza una revisión bibliográfica sobre hipercalciuria. Se establecen las características epidemiológicas, clínicas y terapeúticas de esta entidad

Pharmacokinetics of oxytetracycline in presence of calcium gluconate in goats.

The concentration of oxytetracycline (OTC) in plasma, after single dose i.v. administration at 10 mg kg-1, was determined during pre and post induced-hypercalcemia in goats. The pharmacokinetic variables were then calculated. Hypercalcemia caused several changes in the determined variables. The CPmax and CPmin of OTC observed at 0.08 and 4 hr in normal goats were respectively 34.50 +/- 1.65 and 1.19 +/- 0.14 micrograms ml-1, while the CPmax and CPmin of OTC in presence of calcium at 0.08 and 8 hr were 20.81 +/- 2.18 and 1.04 +/- 0.05 micrograms ml-1 respectively. Hypercalcemic state in goats increased t1/2 (alpha) (0.19 +/- 0.02 hr), t1/2 (beta) (2.77 +/- 0.03 hr), AUC (37.67 +/- 0.83 micrograms x hr x ml vd (area) (1.07 +/- 0.03 L kg-1) and vd (ss) (0.95 +/- 0.04 L kg-1) values of OTC compared to normal goats. The semilogarithmic plot of plasma level-time profile of OTC administered i.v. showed biphasic decline suggestive of two compartment open model 'kinetics' in both normal and hypercalcemic animals.