Introducción: El hiperaldosteronismo primario es la causa más frecuente de hipertensión de origen endocrino. Presentamos una insuficiencia de mineralocorticoides como complicación posterior a adrenalectomía unilateral.
Presentación del caso: Paciente femenina de 51 años, con historia de larga data de hipertensión resistente, hospitalizaciones por hipopotasemia y enfermedad renal crónica hipertensiva. Se confirmó hiperaldosteronismo primario con valores altos de aldosterona e indetectables de renina. La TAC de adrenales mostró un adenoma derecho de 23 mm. Dado el cuadro clínico severo y valores bioquímicos, se llevó directamente a adrenalectomía derecha. Posterior al procedimiento retiran todos los antihipertensivos; sin embargo, la paciente presenta hipotensión, deterioro de la función renal e hiperpotasiemia con valores de aldosterona y renina inapropiadamente normales. Se inició manejo con hidratación y fludrocortisona, presentando adecuada respuesta con normotensión, potasio y azoados normales.
Discusión: La insuficiencia de mineralocorticoides es una complicación poco conocida, aunque frecuente posterior adrenalectomía por hiperaldosteronismo, cursa con hiperpotasiemia, hipotensión y deshidratación. Son factores de riesgo un hiperaldosteronismo severo, de larga data y falla renal. Requiere manejo con fludrocortisona, usualmente de manera transitoria durante semanas a meses.
Conclusión: Se deben vigilar signos de hipoaldosteronismo posterior a la adrenalectomía por hiperaldosteronismo primario, dado que hasta un tercio de pacientes puede presentar insuficiencia de mineralocorticoides.

Abstract
Introduction: Primary hyperaldosteronism is the most frequent endocrine cause of hypertension. We present the case of a patient with mineralocorticoid insufficiency secondary to unilateral adrenalectomy.
Case report: 51 year-old female with a long-standing history of resistant hypertension, multiple admissions due to hypokalemia and chronic kidney disease secondary to hypertension. High aldosterone levels and undetectable renin levels confirmed the diagnosis of primary hyperaldosteronism. Adrenal CT scan showed a 23-mm right adrenal adenoma. Given the severe presentation and confirmatory laboratory results, the patient underwent right adrenalectomy. After the surgical intervention, all antihypertensive medications were withdrawn, but later on, the patient presented hypotension, acute kidney injury and hyperkalemia with inappropriately normal aldosterone and renin levels. Intravenous fluids and fludrocortisone were started with adequate response given by normal blood pressure, normal potassium levels and normal kidney function.
Discussion: Mineralocorticoid insufficiency is not a very well-known, although frequent, complication of adrenalectomy secondary to hyperaldosteronism. Patients present with hyperkalemia, hypotension and dehydration. Risk factors for developing mineralocorticoid insufficiency include severe hyperaldosteronism, long-standing hyperaldosteronism and kidney failure. Its management requires the transient use of fludrocortisone for weeks to months.
Conclusion: Signs of aldosterone insufficiency must be followed after adrenalectomy secondary to primary hyperaldostornism, given that up to one third of patients may present with mineralocorticoid insufficiency.

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Desde la antigüedad se habló de la diabetes. Se hicieron descripciones aisladas a menudo desconocidas por posteriores investigadores, no relacionaban su hallazgo con la enfermedad y daban explicaciones incorrectas sobre la causa de lo que observaban.

Descubrimiento de la insulina
La insulina fue descubierta en la ciudad de Toronto en el verano del año 1921, gracias a la tenacidad de un médico que logró el importante hallazgo científico. En 1920, Frederick Banting (1891-1941), en la revista Surgery, Gynecology & Obstetrics encontró un caso autopsiado de Moses Barron sobre litiasis pancreática con atrofia de los acinis y persistencia de los islotes, parecido a lo que se observaba al bloquear por ligaduras un conducto pancreático. Esa noche escribió: “Diabetes. Ligar el conducto pancreático del perro. Mantener los perros vivos hasta que se degeneren sus acinis, quedando los islotes. Tratar de aislar la secreción interna de estos para aliviar la glucosuria”.

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Diabetes
insulina
era preinsulínica

La obesidad es una condición patológica caracterizada por la acumulación de exceso de tejido adiposo y está asociada con enfermedades de severidad variable como: diabetes mellitus, enfermedades cardiovasculares, hipertensión arterial, asma, cáncer y trastornos de la función reproductora. Además de los riesgos tradicionales en la presentación de la obesidad con la dieta hipercalórica y la vida sedentaria, existen otros factores ambientales responsables del desarrollo de esta entidad y de su mantenimiento.

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ritmo circadiano
obesidad

Introducción: La osteoporosis posmenopáusica puede coexistir con otras entidades que aumentan la pérdida ósea.
Objetivo: Determinar la frecuencia de causas secundarias de baja masa ósea en mujeres con osteoporosis posmenopáusica en una población colombiana.
Diseño: Estudio descriptivo retrospectivo.
Población: Mujeres mayores de 50 años con diagnóstico reciente de osteoporosis posmenopáusica antes de iniciar tratamiento.
Mediciones: Se incluyeron variables demográficas, densitométricas y bioquímicas como hemoglobina, fosfatasa alcalina, transaminasas, creatinina, 25-hidroxivitamina D, calcio, fósforo, magnesio, calciuria en 24 horas, PTH y TSH.
Resultados: Se incluyeron 129 mujeres con edad promedio de 67+/-8,8 años. Cuarenta y nueve mujeres (36%) presentaban antecedente de fractura por fragilidad. En el 86,8% se encontró al menos una alteración bioquímica asociada con pérdida de masa ósea, documentándose insuficiencia de vitamina D en 71,8%, hiperparatiroidismo normocalcémico en 18,1% e hipercalciuria en 6,4%. Las mujeres con antecedente de fractura presentaron valor promedio de fosfatasa alcalina superior (111,6 +/- 61,3 vs 87,1 +/- 30,4 U/L, p= 0,0143) y promedio de hemoglobina inferior (12,9 +/- 1,2 vs. 14,2 +/- 1,2gr/dl, p<0,0001) al compararse con las mujeres sin fractura. Se encontró correlación inversa entre los niveles de fosfatasa alcalina y la densidad mineral ósea de la columna lumbar (p<0,001) y la cadera (p=0,003).
Conclusiones: Las causas secundarias de baja masa ósea en mujeres con OPM son frecuentes en nuestro medio. Con base en una frecuencia de alteraciones mayor al 5%, sugerimos la evaluación de toda mujer con OPM con hemoglobina, calcio, calciuria en 24 horas, 25-hidroxivitamina D, AST, PTH y TSH.

Abstract
Introduction: Postmenopausal osteoporosis can coexist with other entities that increase bone loss.
Aim: To determine the frequency of secondary causes of low bone mass in women with postmenopausal osteoporosis in a Colombian population.
Materials and methods: A retrospective descriptive study was conducted, including women over 50 years with newly diagnosed postmenopausal osteoporosis without treatment. Demographic, densitometric and biochemical variables such as hemoglobin, alkaline phosphatase, transaminases, creatinine, 25 hydroxivitamin D, calcium, phosphorus, magnesium, calciuria in 24 hours, PTH and TSH were evaluated.
Results: 129 women with a mean age of 67 +/- 8,8 years were included. 49 patients (36%) had history of fragility fracture. At least one biochemical disorder associated with bone loss was reported in 86,8% of cases, vitamin D insufficiency was documented in 71,8%, normocalcemic hyperparathyroidism in 18,1% and hypercalciuria in 6,4%. Women with history of fracture showed higher average value of alkaline phosphatase (111,6 +/- 61,3 vs 87,1 +/- 30,4 U/L, p=0,0143) and lower mean hemoglobin (12,9 +/- 1,2 vs 14,2 +/- 1,2 gr/dl, p<0,0001) compared with women without fracture. Inverse correlation was found between levels of alkaline phosphatase and bone mineral density of lumbar spine (p<0,001) and hip (p=0,003).
Conclusions: Secondary causes of low bone mass in women with PMO are frequent in our clinical practice. Based on a frequency of laboratory abnormalities greater than 5%, we suggest that all women with PMO should be studied with hemoglobin, serum calcium, urinary calcium in 24 hours, 25 hydroxivitamin D, AST, PTH and TSH.
Keywords: ; ; etiology;; .

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Osteoporosis posmenopáusica
fractura osteoporótica
etiología
densidad mineral ósea
deficiencia de vitamina D
hiperparatirodismo secundario
hipercalciuria
Postmenopausal osteoporosis
osteoporotic fracture
etiology
bone mineral density
vitamin D deficiency
secondary hyperparathyroidism
hypercalciuria

Los pacientes llevados a trasplante renal, potencialmente desarrollan enfermedad ósea relacionada con trasplante,  esta  ocurre  tempranamente  luego  del  trasplante, con una rápida disminución en la densidad mineral ósea en los primeros 6 a 12 meses, de origen multifactorial; combina alteraciones en el metabolismo del calcio, fósforo, hormona paratiroidea (PTH) y vitamina D después de trasplante renal exitoso.

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12. National Kidney Foundation. Parathyroid Hormone and Secondary Hyperparathyroidism in Chronic Kidney Disease.; 2012. https://www.kidney.org/ sites/default/files/02-10-4899_GB_SHPT-PTH_v8.pdf.
13. Ostovan MA, Fazelzadeh A, Mehdizadeh AR, Razmkon A, Malek-Hosseini S-A. How to decrease cardiovascular mortality in renal transplant recipients. Transplant Proc. 2006;38(9):2887-2892. doi:10.1016/j.transproceed.2006.08.091.
14. Cianciolo G, Capelli I, Angelini ML, et al. Importance of vascular calcification in kidney transplant recipients. Am J Nephrol. 2014;39(5):418-426. doi:10.1159/000362492.
15. Kurowski A. Comparative Analysis of Hypertension and its Causes among Renal Replacement Therapy Patients. Ann Transplant. 2014;19:556-568. doi:10.12659/AOT.891248.
16. Vipattawat K, Kitiyakara C, Phakdeekitcharoen B, et al. Vascular calcification in long-term kidney transplantation. Nephrology (Carlton). 2014;19(4):251-256. doi:10.1111/nep.12210.

Objetivo: Describir las características clínicas y los hallazgos histopatológicos de los pacientes con diagnóstico de cáncer de tiroides y estudio de la mutación del Gen BRAF V600E.
Métodos: Estudio descriptivo, retrospectivo, con información obtenida de las historias clínicas de los pacientes con diagnóstico de cáncer de tiroides atendidos durante 2014 y 2105 en la Fundación Clínica Valle del Lili con estudio para la mutación del gen BRAF V600E.
Resultados: De los 344 pacientes con diagnóstico de cáncer de tiroides durante los años 2014 y 2015, se les realizó estudio de la mutación BRAF V600E a 24. La edad promedio fue de 47 años, con predominio en mujeres (87,5%), fueron positivos para la mutación 66% de los pacientes. En relación a las características histopatológicas, el 95,8% de los casos correspondían a cáncer papilar de tiroides, la mayoría de la variedad clásica. Los pacientes con la mutación BRAF V600E tenían mayor extensión extratiroidea, invasión linfática, invasión vascular y compromiso ganglionar, pero no se encontró relación con respecto a tamaño tumoral, multicentralidad, bilateralidad, tiroiditis de Hashimoto o presencia de metástasis.
Conclusión: Este es el primer estudio en Colombia, que describe las características clínicas e histopatológicas de los pacientes con cáncer de tiroides en relación a la presencia de la mutacion del Gen BRAF.

Abstract
Objective: To describe the clinical and histopathological findings of patients diagnosed with thyroid cancer and BRAF V600E gene mutation study.
Methods: A descriptive, retrospective study, with information obtained from the medical records of patients diagnosed with thyroid cancer seen during 2014 and 2105 in the Fundacion Clínica Valle del Lili with analysis of the BRAF V600E gene mutation.
Results: Of the 344 patients diagnosed with thyroid cancer during the years 2014 and 2015, underwent study of the BRAF V600E to 24. The average age was 47 years, with prevalence in women (87.5%) were positive for mutation 66% of patients. Regarding the histopathologic features, 95.8% of the cases werepapillary thyroid cancer, most classic variety. Patients with BRAF V600E mutation were more extrathyroid extension, lymphatic invasion, vascular invasion and nodal involvement, but no relationship was found with respect to tumor size, multicentrality, bilateralism, Hashimoto’s thyroiditis or presence of metastasis.
Conclusion: This is the first study in Colombia, describing the clinical and histopathologic of patients with thyroid cancer in relation to the presence of the BRAF gene mutation characteristics.

1. Haugen BR, Alexander EK, Bible KC, Doherty GM, Mandel SJ, Nikiforov YE, et al. American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer: The American Thyroid Association Guidelines Task Force on Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid. 2016; 26(1):1-133.
2. Pardo CC, Ricardo. Incidencia prevalencia y mortalidad de Cancer en Colombia 2007 a 2011.
3. Dean DS, Hay ID. Prognostic indicators in differentiated thyroid carcinoma. Cancer Control. 2000;7(3):229-39.
4. Sun J, Zhang J, Lu J, Gao J, Ren X, Teng L, et al. BRAF V600E and TERT Promoter Mutations in Papillary Thyroid Carcinoma in Chinese Patients. PLoS One. 2016;11(4): e0153319.
5. Lupi C, Giannini R, Ugolini C, Proietti A, Berti P, Minuto M, et al. Association of BRAF V600E mutation with poor clinicopathological outcomes in 500 consecutive cases of papillary thyroid carcinoma. J Clin Endocrinol Metab. 2007;92(11):4085-90.
6. Kimura ET, Nikiforova MN, Zhu Z, Knauf JA, Nikiforov YE, Fagin JA. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papil- lary thyroid carcinoma. Cancer Res. 2003;63(7):1454-7.
7. Xing M. BRAF mutation in thyroid cancer. Endocr Relat Cancer. 2005;12(2):245-62.
8. Xing M, Alzahrani AS, Carson KA, Shong YK, Kim TY, Viola D, et al. Association between BRAF V600E mutation and recurrence of papillary thyroid cancer. J Clin Oncol. 2015;33(1):42-50.
9. Peralta Gómez JA. Mutación BRAF V600E y su asociación con presencia de carcinoma de tiroides papilar en bacaf de pacientes con nódulo tiroideo. Biblioteca digital Universidad Nacional de Colombia 2015.
10. Edge SB BD, Compton CC, Fritz AG, Greene, FL TA. AJCC Cancer Staging Man- ual. 7th ed: Springer-Verlag; 2010.
11. Li C, Lee KC, Schneider EB, Zeiger MA. BRAF V600E mutation and its association with clinicopathological features of papillary thyroid cancer: a meta-analysis. J Clin Endocrinol Metab. 2012;97(12):4559-70.
12. Asioli S, Erickson LA, Sebo TJ, Zhang J, Jin L, Thompson GB, et al. Papillary thyroid carcinoma with prominent hobnail features: a new aggressive variant of moderately differentiated papillary carcinoma. A clinicopathologic, immunohistochemical, and molecular study of eight cases. Am J Surg Pathol. 2010;34(1):44-52.
13. Jin L, Chen E, Dong S, Cai Y, Zhang X, Zhou Y, et al. BRAF and TERT promoter mutations in the aggressiveness of papillary thyroid carcinoma: a study of 65 patients. Oncotarget. 2016.
14. Tufano RP, Teixeira GV, Bishop J, Carson KA, Xing M. BRAF mutation in papillary thyroid cancer and its value in tailoring initial treatment: a systematic review and meta-analysis. Medicine (Baltimore). 2012;91(5):274-86.
15. Fraser S, Go C, Aniss A, Sidhu S, Delbridge L, Learoyd D, et al. BRAF Mutation is Associated with Decreased Disease-Free Survival in Papillary Thyroid Cancer. World J Surg. 2016.
16. Mariscal SJ, Rocio. Sastre, Julia. Aso, Sonsoles. Gonzales, Ariel. Estudio de mutaciones v600e del gen BRAF en el carcinoma papilar de tiroides. 2012.

Mutación BRAF V600E
cáncer de tiroides

Pituicitoma es un tumor único de bajo grado, originado en las células magnocelulares de la neurohipófisis, o en el infundíbulo. Es una entidad rara, que afecta a los adultos. Las manifestaciones clínicas dependen de la localización y el tamaño, pudiendo simular un adenoma hipofisiario, pues también puede comprometer cualquier eje hipofisiario. El diagnóstico se realiza por medio de resonancia magnética nuclear (RMN) y biopsia, y su tratamiento puede ser por medio de medicamentos o cirugía.
En este articulo presentamos dos casos clínicos de dos adultos con pituicitoma, quienes tuvieron hallazgos radiológicos similares.

Abstract
Pituicytoma is an only low-grade tumor which is originated from magnocellular cells in neurohypophysis or in infundibulum. It is a rare condition that affects adults. The clinical manifestations depends on the location and size because it is similar to a pituitary adenoma, so it produces nonspecific damage to the pituitary axis. For the diagnosis is usually performed with Magnetic Resonance Imaging (MRI) and biopsy and treatment of this disease may be with drugs or surgery.
In this article we show two clinical cases of two adults with pituicytoma who had similar radiological findings.

1. Low MJ. Neuroendocrinology. In: Elsevier I, editor. Williams Textbook of Endocrinology. 13: Elsevier, Inc.; 2016. p. 109-75.
2. R. B, Javorsky M, MD DCA, MS J, W. Findling M, J. Blake Tyrrell M. Hipotálamo y glándula hipófisis GreenspanEndocrinologiaBasicayClinica. 9. 9 ed. México, D.F.: McGRAW-HILL/Interamericana Editores, S.A. de C.V; 2011. p. 65-114.
3. Rivero-Celada D, Barrera-Rojas M, Orduna-Martínez J, Lorente-Muñoz A, Alfaro-Torres J, Alberdi-Viñas J. [Pituitary pituicytoma]. Neurocirugia (Astur). 2012;23(4):165-9.
4. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, Burger PC, Jouvet A, et al. The 2007 WHO classification of tumours of the central nervous system.
Acta Neuropathol. 2007;114(2):97-109.
5. Kosuge Y, Hiramoto J, Morishima H, Tanaka Y, Hashimoto T. Neuroimag- ing characteristics and growth pattern on magnetic resonance imaging in a 52-year-old man presenting with pituicytoma: a case report. J Med Case Rep. 2012;6:306.
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8. Pirayesh Islamian A, Buslei R, Saeger W, Fahlbusch R. Pituicytoma: overview of treatment strategies and outcome. Pituitary. 2012;15(2):227-36.
9. LISS L, KAHN EA. Pituicytoma, tumor of the sella turcica; a clinicopathological study. J Neurosurg. 1958;15(5):481-8.
10. Furtado SV, Ghosal N, Venkatesh PK, Gupta K, Hegde AS. Diagnostic and clinical implications of pituicytoma. J Clin Neurosci. 2010;17(7):938-43.
11. Katsuta T, Inoue T, Nakagaki H, Takeshita M, Morimoto K, Iwaki T. Distinctions between pituicytoma and ordinary pilocytic astrocytoma. Case report. J Neurosurg. 2003;98(2):404-6.
12. Benveniste RJ, Purohit D, Byun H. Pituicytoma presenting with spontaneous hemorrhage. Pituitary. 2006;9(1):53-8.
13. Hammoud DA, Munter FM, Brat DJ, Pomper MG. Magnetic resonance imag- ing features of pituicytomas: analysis of 10 cases. J Comput Assist Tomogr 2010;34:757–761.
14. Orrego JJ. Pituicytoma and isolated ACTH deficiency. Pituitary 2009;12:371– 372.

pituicitoma
hipófisis posterior
neoplasias pituitarias
adulto joven
pituicytoma
posterior pituitary
pituitary tumors
adult

La osteogénesis imperfecta (OI) corresponde a un conjunto de trastornos hereditarios del tejido conectivo que tienen como manifestación común la fragilidad ósea. Su etiología es de origen genético y la gran mayoría de casos corresponden a mutaciones autosómicas dominantes de genes que codifican para el colágeno tipo I. Su diagnóstico es primariamente clínico basado en las características típicas de la enfermedad. Reportamos el caso de una mujer con historia de fracturas recurrentes en diferentes ocasiones, y el de su hija de tres años, quien al momento del reporte ya ha presentado dos fracturas.

Abstract

Osteogenesis imperfecta (OI) encompasses a group of inherited connective tissue with bone fragility as its common manifestation. Its etiology is genetic in nature and the vast majority of cases are due to autosomal dominant mutations of genes that code for collagen type I proteins. Diagnosis is primarily based on the typical clinical features of the disease. We report the case of a woman with a history of recurrent fractures at different moments in time, and her three year old daughter who at the moment of this report has already had two fractures.

1. Harrington J, Sochett E, Howard A. Update on the evaluation and treatment of osteogenesis imperfecta. Pediatric Clin North Am. 2014 Dec;61(6):1243- 57. doi: 10.1016/j.pcl.2014.08.010. Epub 2014 Sep 22.
2. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16(2):101–16.
3. Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;8(10):36545.
4. Ben Amor IM, Glorieux FH, Rauch F. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. J Osteoporos.
2011;2011:540178.
5. Bodian DL, Chan TF, Poon A, et al. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet 2009;18(3):463–71.
6. Willing MC, Deschenes SP, Scott DA, et al. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 1994;55(4):638–47.
7. Körkkö J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: Identification of common sequences of null-allele mutations. Am J Hum Genet. 1998;62(1):98.
8. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377.
9. Engelbert RH, Beemer FA, van der Graaf Y, Helders PJ. Osteogenesis imperfecta in childhood: impairment and disability: a follow-up study. Arch Phys Med Rehabil. 1999;80(8):896.
10. She CG, Zhang Y, Yuan W. Efficacy of biphosphonates on bone mineral density and fracture rates in patients with osteogenesis imperfecta: A systematic review and meta-analysis. Am J They. 2015 Apr 3.
11. Hald JD, Evangelou E, Langdahl BL, Ralston SH. Biphosphonates for the prevention of fractures in osteogenesis imperfecta: meta-analysis of placebo- controlled trials. J Bone Miner Res. 2015 May;30(5):929-33. dos: 10.1002/ jbmr.2410.
12. Falk MJ, Heeger S, Lynch A. Intravenous bisphosphonate therapy in children with osteogenesis imperfect. Pediatrics 2003; 111: 573-8.
13. Bajpai A, Kabra M , Gupta N, Sharda S, Ghosh M. Intravenous pamidronate therapy in osteogenesis imperfecta: response to treatment and factors in uencing outcome. J Pediatr Orthop 2007; 27: 225-7.
14. Lazala O, Solaque H. Terapia con bisfosfonatos en osteogenesis imperfecta. Rev Col Or Tra. 2009;23(2):109-14.
15. Sánchez-Sánchez LM, Cabrera-Pedroza AU, Palacios-Saucedo G, et al. Ácido zoledrónico (zolendronato) en niños con osteogénesis imperfecta (OI). Gac Med Mex. 2015;151:164-8.

osteogénesis imperfecta
osteoporosis
fracturas óseas
adulto
terapia
bone fractures
adult
therapeutics

El feocromocitoma es un tumor productor de catecolaminas. Se describe la experiencia en el diagnóstico, manejo y seguimiento de pacientes con este diagnóstico en una institución de alta complejidad en Cali, Colombia, en los últimos 10 años. Se encontraron 11 casos con diagnóstico de feocromocitoma llevados a cirugía, dos de estos extraadrenal y uno maligno. Fueron asintomáticos 18%, 81% presentaron hipertensión arterial. La evolución posquirúrgica de los pacientes fue favorable, 33% persistieron con hipertensión arterial (HTA) luego de la resección del tumor, requiriendo menor dosis de antihipertensivos. El único caso de malignidad tuvo una respuesta no satisfactoria. A pesar de ser un diagnóstico infrecuente, su abordaje es importante debido a la morbilidad que representa. Las características de nuestra población son similares a lo reportado en la literatura, con baja frecuencia de complicaciones y adecuada respuesta al tratamiento.

Abstract
Pheochromocytoma is a catecholamine-producing tumor. We describe the experience in the diagnosis, management and monitoring of patients with pheochromocytoma in a highly complex institution in Cali, Colombia, in the last 10 years. We identified 11 cases with diagnosis of pheochromocytoma, who were taken to surgery, being two of these extraadrenal and one of these malignant. 18% were asymptomatic, 81% had hypertension. The postoperative course of patients was favorable, 33% persisted hypertensive after tumor resection, although less doses of blood pressure medication were required. The only case of malignancy had an unsatisfactory response. Despite being a rare diagnosis, the approach is important because morbidity in our population is similar to those reported in the literature, with a low frequency of complications and adequate response to treatment.

1. Lenders J, Eisenhofer G, Mannelli M, Pacak K. Phaeochromocytoma. Lancet [Internet]. 2005; Available from: http://linkinghub.elsevier.com/retrieve/ pii/S0140673605671395\npapers2://publication/uuid/05CB9BF0- B7B4-4459-A95F-EB86E48D8365.
2. Manger WM, Gifford RW. Pheochromocytoma. J Clin Hypertens [Inter- net]. 2002;4(1):62–72. Available from: http://www.ncbi.nlm.nih.gov/ entrez/ query.fcgi?cmd=Retrieve&db =Pu bMed&dop t=Cit ation&l ist _ uids=11821644.
3. D´Achiardi R, Torres H, Guzmán J, Ordoñez JD. Feocromocitoma: presentación de seis casos. Acta Médica Colomb. 1980;5(3):453–63.
4. Shlomo Nelmed, Keneth Polonsky, P. Reed Larsen HMK. Williams Textbook of Endocrinology. 12th ed. Saunders E, editor. 2011. 548-549.
5. Castilho LN, Simoes F a, Santos a M, Rodrigues TM, Dos Santos Jr. C a. Pheo- chromocytoma: A long-term follow-up of 24 patients undergoing laparoscopic adrenalectomy. Int Braz J Urol [Internet]. 2009;35:24–31. Available from: http://www.embase.com/search/results?subaction=viewrecord&fr om=export&id=L354826797.
6. Plouin PF, Chatellier G, Fofol I, Corvol P. Tumor recurrence and hypertension persistence after successful pheochromocytoma operation. Hypertension [Internet]. 1997;29(5):1133–9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/9149678\n http://hyper.ahajournals.org.ezp-prod1.hul. harvard.edu/cgi/content/full/29/5/1133.
7. Edstr??m Elder E, Skog AHH, H????g A, Hamberger B. The management of benign and malignant pheochromocytoma and abdominal paraganglioma. Eur J Surg Oncol. 2003;29(3):278–83.
8. Shao Y, Chen R, Shen Z, Teng Y, Huang P, Rui W, et al. Preoperative alpha blockade for normotensive pheochromocytoma: is it necessary? J Hypertens [Internet]. 2011;29(12):2429–32. Available from: http://www.ncbi. nlm.nih.gov/pubmed/22025238.
9. Kiernan CM, Du L, Chen X, Broome JT, Shi C, Peters MF, et al. Predictors of hemodynamic instability during surgery for pheochromocytoma. Ann Surg Oncol [Internet]. 2014;21(12):3865–71. Available from: http://www.ncbi. nlm.nih.gov/pubmed/24939623.
10. Weingarten TN, Cata JP, O’Hara JF, Prybilla DJ, Pike TL, Thompson GB, et al. Comparison of two preoperative medical management strategies for laparoscopic resection of pheochromocytoma. Urology. 2010;76(2):508.
11. Namekawa T1, Utsumi T2 KK. Clinical predictors of prolonged postresection hypotension after laparoscopic adrenalectomy for pheochromocytoma. Surgery. 2016;159(3):763–70.
12. Eisenhofer G, Bornstein SR, Brouwers FM, Cheung NK V, Dahia PL, De Krijger RR, et al. Malignant pheochromocytoma: Current status and initiatives for future progress. Endocrine-Related Cancer. 2004. p. 423–36.
13. Huang KH, Chung SD, Chen SC, Chueh SC, Pu YS, Lai MK, et al. Clinical and pathological data of 10 malignant pheochromocytomas: Long-term follow up in a single institute. Int J Urol. 2007;14(3):181–5.

feocromocitoma
paranganglioma
tumores adrenales

Se presenta un paciente con diabetes mellitus tipo 1, con una complicación poco frecuente conocida como síndrome de Mauriac. Se realizan ayudas diagnósticas tendientes a descartar diagnósticos diferenciales como la mucopolisacaridosis tipo I, que se consideró una de las enfermedades de depósito más probables en el caso del paciente. Finalmente, se presenta una discusión del caso, resumiendo los aspectos fundamentales que llevaron a la sospecha del síndrome de Mauriac.

Abstract
This is a case report of a patient with diabetes mellitus type 1 and a rare complication known as Mauriac syndrome. Laboratory tests were performed to rule out differential diagnoses, such as mucopolysaccharidosis type I, which was considered one of the storage diseases, most likely for the patient. Finally, we present a discussion of the case, summarizing the key issues that led to the suspicion of a Mauriac syndrome.

1. Muñoz G. Hepatomegalia. Pediatr Integral. 2015; XIX (3): 180-197.
2. Mauriac P. Grosventre, hepatomegalie, troble de la croissance chez les enfants diabetiques: traits depuis plusieursannesparl’insuline. Gaz Hebl Sci Med Bordeaux 1930; 26: 402-410.
3. Giordano S, Martocchia A, Toussan L, Stefanelli M, Pastore F, Devito A, Risicato MG, Ruco L, Falaschi P. Diagnosis of hepatic glycogenosis in poorly controlled type 1 diabetes mellitus. World J Diabetes 2014; 5(6): 882-888.
4. Martocchia A, Risicato MG, Mattioli C, Antonelli M, Ruco L, Falaschi P. Association of diffuse liver glycogenosis and mild focal macrovesicular steatosis in a patient with poorly controlled type 1 diabetes. Intern Emerg Med 2008; 3: 273-274.
5. Kim MS, Quintos JB. Mauriac syndrome: Growth failure and type 1 diabetes mellitus. Pediatric endocrinology reviews 2008; 5 suppl 4: 989-93.
6. Elder, C J. and A. Natarajan. “Mauriac Syndrome - A Modern Reality”. Journal of Pediatric Endocrinology and Metabolism 2011; 23: 311-314.
7. Fitzpatrick E, Cotoi C, Quaglia A, et al. Hepatopathy of Mauriac syndrome: a retrospective review from a tertiary liver centre. Arch Dis Child 2014; 99:354–357.
8. Bua, Jenny Bussani, Rossana et al. Hepatic Glycogenosis in an Adolescent with Diabetes. The Journal of Pediatrics 2010;157(6): 1042.
9. Flotats Bastardas M et al. Hepatomegalia por depósito de glucógeno hepático y diabetes mellitus tipo 1. An Pediatr (Barc). 2007;67(2):157-60.
10. Guardamagna O, Nair D, Soran H, Hovingh K, Calandra S, Hamilton J, et al. Lysosomal acid lipase deficiency e An under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014;235:21-30.
11. Rua M. Enfermedades metabólicas lisosomales manifestaciones osteoarticulares. Protoc diagn ter pediatr. 2014;1:231-9.

diabetes mellitus tipo 1
enfermedades metabólicas
complicaciones de diabetes
deficiencia de lipasa ácida lisosomal
mucopolisacaridosis tipo 1
síndrome de Mauriac