The 499th case: Roux-en-Y gastric bypass, limb weakness, and ostealgia / 中华内科杂志

A 36-year-old woman was admitted to the Peking Union Medical College Hospital with a history of fractures for 2 years, limb weakness for 1 year, and ostealgia for 2 months. The patient's examination identified iron deficiency anemia, significantly decreased serum calcium and 25-hydroxyvitamin D3 levels, and increased alkaline phosphatase and parathyroid hormone levels. Imaging showed several typical signs of osteomalacia. Considering the history of Roux-en-Y gastric bypass surgery, the diagnosis was considered to be osteomalacia caused by a postoperative nutritional absorption disorder. The patient was supplemented with calcitriol, calcium, and vitamin D and gradually returned to normal physical activity. The bone metabolism indicators and bone density were significantly improved.

Imaging Characteristics of 68Ga-DOTATATE PET/CT in Tumor-Induced Osteomalacia / 罕见病研究

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by tumors secreting fibroblast growth factor 23 (FGF23) that promotes urinary phosphorus excretion. Thus, TIO is typically characterized by phosphoruria, hypophosphatemia, and osteomalacia. Diagnosis and localization of the tumor is often difficult due to its small size, slow growth and concealed location. Due to the high expression of somatostatin receptors in pathogenic tumors, nuclear medicine functional imaging, particularly somatostatin receptor imaging, is used for diagnosis and localization of culprit tumors with high sensitivity and specificity. Here we retrospectively analyze 25 cases in which 68Ga-DOTATATE PET/CT successfully localized and diagnosed TIO culprit tumors. The clinical features, pathological results and image characteristics of 68Ga-DOTATATE PET/CT imaging were analyzed and compared with other imaging diagnostic techniques. It was confirmed that 68Ga-DOTATATE PET/CT imaging was the preferred imaging technique for successful diagnosis and localization of TIO pathogenic tumors.

New treatments for rare bone diseases: hypophosphatemic rickets/osteomalacia

Abstract Phosphorus is one of the most abundant minerals in the human body; it is required to maintain bone integrity and mineralization, in addition to other biological processes. Phosphorus is regulated by parathyroid hormone, 1,25-dihydroxyvitamin D3 [1,25(OH)2D3], and fibroblast growth factor 23 (FGF-23) in a complex set of processes that occur in the gut, skeleton, and kidneys. Different molecular mechanisms - overproduction of FGF-23 by tumors responsible for oncogenic osteomalacia, generation of an FGF-23 mutant that is resistant to cleavage by enzymes, and impaired FGF-23 degradation due to a reduction in or loss of the PHEX gene - can lead to FGF-23-stimulating activity and the consequent waste of urinary phosphate and low levels of 1,25(OH)2D3. Conventional treatment consists of multiple daily doses of oral phosphate salts and vitamin D analogs, which may improve radiographic rickets but do not normalize growth. Complications of the conventional long-term treatment consist of hypercalcemia, hypercalciuria, nephrolithiasis, nephrocalcinosis, impaired renal function, and potentially chronic kidney disease. Recently, burosumab, an antibody against FGF-23, was approved as a novel therapy for children and adults with X-linked hypophosphatemia and patients with tumor-induced osteomalacia. Burosumab showed good performance in different trials in children and adults. It increased and sustained the serum phosphorus levels, decreased the rickets severity and pain scores, and improved mineralization. It offers a new perspective on the treatment of chronic and disabling diseases. Arch Endocrinol Metab. 2022;66(5):658-65

Association of Serum Calcium and Vitamin D with Benign Paroxysmal Positional Vertigo

Abstract Introduction Benign paroxysmal positional vertigo (BPPV) is one of the common disorders of the peripheral vestibular system. The prevalence of BPPV is found to be higher among middle-aged women. Objectives To estimate the serum levels of calcium and vitamin D in patients with BPPV, and to study their association. Methods The present is a hospital-based prospective case-control study. Venous blood samples of the 49 patients with BPPV and an equal number of age- and gender-matched individuals were recruited and submitted to an analysis of the serum levels of calcium and vitamin D. Results Among the cases, 67.3% were found to be females, and 32.7% were males. Most of the 30 cases (61.3%) were aged >40 years. The mean age of the cases was 44.39 years. The mean serum level of vitamin D in the cases was of 21.26 ng/ml compared with 17.59 ng/ml in the controls. The mean serum level of calcium was of 9.33 mg/dl in the cases, compared with 8.95 mg/dl in the controls. There was no significant difference in the serum levels of vitamin D and calcium between cases and controls. Conclusion We could not establish any correlation between the serum levels of calcium and vitamin D with BPPV. However, a negative relationship was found between the serum levels of vitamin D and the number of episodes of BPPV (p = 0.012).

Phosphaturic mesenchymal tumor: An underdiagnosed rare entity

Tumor-induced osteomalacia is a paraneoplastic syndrome resulting in renal phosphate wasting and decreased bone mineralization. Phosphaturic mesenchymal tumors represent a rare etiology of tumor-induced osteomalacia. They are exceptionally rare, probably accounting for < 0.01% of all soft tissue tumors. Most PMTs present as small inapparent lesions that require very careful clinical examination and radionucleotide scan for localization. Here we describe a case in a 65 years old woman with recurrent multiple bone fractures and subsequent detection of a tumor involving right femur and adjacent soft tissue, low phosphate level and elevated serum Fibroblast growth factor-23 (FGF-23).

Guideline for the diagnosis and management of hypophosphatemic rickets/osteomalacia / 中华内分泌代谢杂志

Hypophosphatemic rickets/osteomalacia is a group of rare chronic metabolic bone diseases, which has detrimental impact on the growth, mobility, and life quality of the patients. Because of its rarity, the public awareness remains low, so does in general physician, which leads to delayed diagnosis and treatment. With a vision to standardize the diagnosis and treatment of hypophosphatemic rickets/osteomalacia, Chinese Society of Endocrinology and Chinese Society of Osteoporosis and Bone Mineral Research convened a national group of experts to compose this guideline based on current evidence, which covered the pathogenesis, diagnosis, treatment and management of hypophosphatemic rickets/osteomalacia. In summary, this work outlines recommendations for clinicians, aiming to improve the management of hypophosphatemic rickets/osteomalacia in China.

Raquitismo hipofosfatémico ligado al cromosoma X: un reto diagnóstico y terapéutico

La hipofosfatemia ligada al X es un desorden genético ocasionado por mutaciones del gen PHEX (phosphate regulating endopeptidase analog, X-linked). Esta afecta la codificación de una metaloproteasa que tiene como función inhibir el factor de crecimiento fibroblástico - 23 (FGF-23), promoviendo la pérdida renal de fosfato. A continuación, describimos el caso de un paciente de edad pediátrica a quien se le hace diagnóstico en la adolescencia con una mutación del gen PHEX. Posteriormente, la misma alteración genética fue encontrada en la madre, considerada como una mutación espontánea que fue trasmitida a su hijo. Esto aumenta la rareza del caso, donde el reto para diagnosticar esta patología necesita vencer dificultades administrativas, económicas y sociales. El diagnóstico y tratamiento oportuno ayudan a optimizar la talla final y minimizar todas las deformidades esqueléticas presentadas, tanto en la madre como en el hijo. En la actualidad se cuenta con el tratamiento tradicional y uno novedoso que fue ordenado para el paciente pediátrico de este reporte.

SUMMARY X-linked hypophosphatemia is a genetic disorder caused by PHEX gene mutations, which affects the encoding of a metalloprotease whose function is to inhibit fibroblastic growth factor-23 (FGF-23), promoting phosphate renal loss. Following we describe the case of a teenager diagnosed with a PHEX gene mutation. The same genetic alteration was found in the mother of the patient, considering a spontaneous mutation that was transmitted to her son, which makes the case, even rarer, where the diagnostic challenge needs to overcome administrative, economic and social difficulties. A timely diagnosis and treatment could help optimize the final height and minimize the skeletal deformities presented in both the mother and the child. Currently, there is a traditional treatment and a novel one that was ordered for the pediatric patient in this report.

Osteomalacia oncogénica secundaria a tumor mesenquimal fosfatúrico del pie / Oncogenic osteomalacia secondary to phosphaturic mesenchymal tumour of the foot

RESUMEN La osteomalacia oncogénica es un síndrome metabólico paraneoplásico caracterizado por hipofosfatemia debida a la pérdida renal de fosfato, con nivel bajo de vitamina D. Este trastorno está asociado con la liberación de factores fosfatúricos por células tumorales, especialmente el factor de crecimiento fibrolástico 23 (FGF23). Las neoplasias relacionadas con la osteomalacia oncogénica suelen ser tumores pequeños de linaje mesenquimatoso y pueden ser difíciles de localizar en algunos casos debido a su tamaño y ubicación poco accesible al examen físico. Presentamos a un paciente que desarrolló fracturas vertebrales y de cadera debido a osteomalacia oncogénica asociada con un tumor mesenquimatoso fosfatúrico del tejido graso profundo de la planta del pie, que finalmente se diagnosticó después de 3 años del inicio de los síntomas, cuando el tumor pudo ser localizado por el rastreo gammagráfico óseo con pentatreótido marcado con indio-111 y por las imágenes de resonancia magnética nuclear.

ABSTRACT Oncogenic osteomalacia is a paraneoplastic metabolic syndrome characterised by a low phosphates in the blood due to renal phosphate losses with inadequately normal or low vitamin D levels. This disorder is associated with the release of tumour cell-secreted phosphaturic factor, most notably fibroblast growth factor 23 (FGF-23). The neoplasms related to oncogenic osteomalacia are usually small tumours of mesenchymal lineage, and they may be difficult to locate in the physical examination in some cases, due to their size and inaccessible location. The case is presented of a patient who developed vertebral and hip fractures due to oncogenic osteomalacia associated with a phosphaturic mesenchymal tumour of the deep fat tissue in the sole of the foot. This was finally diagnosed after 3 years of the onset of symptoms after being located by bone scintigraphy with Indium-111 labelled pentetreotide and magnetic resonance imaging.

Hypovitamanosis D and non cardiac chest pain

Background: Recurrent atypical chest pain not due to cardiac illness is a very common condition in medical outpatient departments. Authors found that people consulting for atypical chest pain often have significant Vitamin D deficiency and correction of Vitamin D deficiency relieved patient symptoms. Hence authors carried out this study.Methods: Persons aged below 50 years were taken up for study. Those attending medical clinics with complaints of chest pain occurring more than two times were taken up for study. Cardiac illness was excluded by clinical examination and investigations. Those found to have low Vitamin D were taken up for study. 60,000 international units Vitamin D was administered orally weekly for 8 weeks. They were followed up twice weekly for three months and once monthly for three months.Results: Results were analyzed and charted. 120 subjects were taken up for study and duration of study was three years. Average age of the study group was 37.50 years and the average Vitamin D level was 15.75 nanogram/ml (ngm/ml). Duration of chest pain ranged from one week to one year. Most of the patients had migratory chest pain.Conclusions: As Vitamin D deficiency is a treatable medical condition it may be prudent to check Vitamin D levels in the patients presenting with recurrent atypical pain in the chest. It reduces the burden on the health care system and relieves the suffering of the patient. It may not be futile to check Vitamin D levels even in the patients with coronary artery disease who are suffering from atypical chest pain.

Artropatías en el adulto mayor / Arthropathies in the elderly

Introducción: Los pacientes mayores de 65 años son la parte de la población más afectada por las enfermedades reumáticas. El diagnóstico reumatológico en los ancianos se complica por las manifestaciones clínicas que imitan los cambios relacionados con la edad. Objetivo: Sintetizar los aspectos generales del manejo clínico, el diagnóstico y la terapéutica de las principales enfermedades reumáticas inflamatorias y no inflamatorias en este subgrupo de población. Desarrollo: Los principales trastornos musculoesqueléticos no inflamatorios que afectan a los adultos mayores son la osteoartritis, la osteoporosis y el dolor de espalda, mientras que las artritis inflamatorias predominantes comprenden la artritis reumatoide, la artropatía cristalina, la polimialgia reumática y las formas inflamatorias de la osteoartritis. Conclusiones: Para el diagnóstico y la terapéutica de las principales enfermedades reumáticas (inflamatorias y no inflamatorias) en este subgrupo de población, es necesario el enfoque multidisciplinar(AU)

Introduction: It is recognized that patients older than 65 years are the part of the population most affected by rheumatic diseases. The rheumatological diagnosis in the elderly is complicated by clinical manifestations, which mimic the changes related to age. Objective: To synthesize the general aspects of clinical management, diagnosis and therapy of the main rheumatic diseases inflammatory and non-inflammatory in this subgroup of the population. Development: The main non-inflammatory musculoskeletal disorders that affect older adults are osteoarthritis, osteoporosis and back pain, while the predominant inflammatory arthritis include rheumatoid arthritis, crystalline arthropathy, polymyalgia rheumatica and the inflammatory forms of osteoarthritis. Conclusions: It is vital for academics to be involved in the rheumatological aspects of aging and call attention to the imperative that is to promote reflective discussion within community medicine to address the impact of musculoskeletal problems that affect function and mobility of the elderly and immune dysregulation in aging, among other issues(AU)

Osteomalacia. Diagnóstico y tratamiento / Osteomalacia. Diagnosis and treatment

Introducción: la osteomalacia se caracteriza por la falta de mineralización de la sustancia osteoide, que afecta al hueso cortical y al hueso esponjoso maduro. Es una enfermedad que se presenta en adultos y niños, aunque la causa es diferente en cada uno. Objetivo: exponer la generalidad de la osteomalacia por ser una enfermedad que produce serias afectaciones a la población que la padece, especialmente a los niños. Se enfatiza en el diagnóstico y su tratamiento. Desarrollo: a fin de resumir los elementos esenciales para establecer el diagnóstico de osteomalacia hay que plantear en primer lugar, la presencia de un trastorno de la mineralización ósea, de ahí que además de tener en cuenta las causas de la enfermedad, su curso clínico y la sintomatología. Conclusiones: una recomendación importante es no tener en cuenta la posibilidad de complicaciones en el curso de la enfermedad, como las fracturas, que, aunque sean parte del cuadro clínico, al producirse pueden ocasionar graves problemas, como el caso de las que aparecen en las costillas, que si se desplazan pueden interesar órganos vitales, de modo que en este tipo de pacientes no debe excluirse la posibilidad de emergencias o de urgencias reumatológicas tanto en los adultos como en los niños(AU)

Introduction: osteomalacia is characterized by the lack of mineralization of the osteoid substance, which affects cortical bone and mature cancellous bone. It is a disease that occurs in adults and children, although the cause is different in each. Objective: to expose the generality of osteomalacia for being a disease that causes serious affectations to the population that suffers it, especially to children. Emphasis is placed on the diagnosis and its treatment. Development: in order to summarize the essential elements to establish the diagnosis of osteomalacia, we must first consider the presence of a bone mineralization disorder, hence, in addition to taking into account the causes of the disease, its clinical course and the symptomatology. Conclusions: an important recommendation is not to take into account the possibility of complications in the course of the disease, such as fractures, which, although they are part of the clinical picture, can cause serious problems when they occur, as in the case of those that appear in the ribs, which if they move may involve vital organs, so that in this type of patients should not exclude the possibility of emergencies or rheumatological emergencies in both adults and children(AU)

Tumor-Induced Osteomalacia: A Case Study Of A Nasal Tumor

Oncogenous osteomalacia, which is also known as tumor-induced osteomalacia, is a condition where a neoplasm isassociated with systemic bone demineralization and renal phosphaturia. We report a case who presented with a bleedingnasal mass, generalized fatigue, and cramps in her leg. Excision was done, and histopathologically, it was diagnosed tobe a phosphaturic mesenchymal tumor. The cramps disappeared soon after surgery and she is on regular follow-up forthe past 2 years.

Aluminum toxicity to bone: A multisystem effect?

Aluminum (Al) is the third most abundant element in the earth's crust and is omnipresent in our environment, including our food. However, with normal renal function, oral and enteral ingestion of substances contaminated with Al, such as antacids and infant formulae, do not cause problems. The intestine, skin, and respiratory tract are barriers to Al entry into the blood. However, contamination of fluids given parenterally, such as parenteral nutrition solutions, or hemodialysis, peritoneal dialysis or even oral Al-containing substances to patients with impaired renal function could result in accumulation in bone, parathyroids, liver, spleen, and kidney. The toxic effects of Al to the skeleton include fractures accompanying a painful osteomalacia, hypoparathyroidism, microcytic anemia, cholestatic hepatotoxicity, and suppression of the renal enzyme 25-hydroxyvitamin D-1 alpha hydroxylase. The sources of Al include contamination of calcium and phosphate salts, albumin and heparin. Contamination occurs either from inability to remove the naturally accumulating Al or from leeching from glass columns used in compound purification processes. Awareness of this long-standing problem should allow physicians to choose pharmaceutical products with lower quantities of Al listed on the label as long as this practice is mandated by specific national drug regulatory agencies.

Intramastoid Phosphaturic Mesenchymal Tumor Causing Hypophosphatemic Osteomalacia Detected on ⁶⁸Ga-DOTATATE PET/CT But Not on (99m)Tc-Sestamibi and ¹⁸F-FDG Scans / 대한핵의학회잡지

⁶⁸Ga-DOTATATE uptake in mesenchymal tumors causing hypophosphatemic osteomalacia has been recently described. Herein, we present a case of ⁶⁸Ga-DOTATATE uptake in an intramastoid phosphaturic mesenchymal tumor that had not been depicted in previous (99m)Tc-Sestamibi and ¹⁸F-FDG scans. The lesion was surgically removed and the phosphorus level increased to the normal range.

New advance in hypophosphatemic rickets / 中华实用儿科临床杂志

Hypophosphatemic rickets(HR) is a bone mineralization disorder caused by phosphate wasting, including hypophosphatemia, bone abnormalities and short stature.X-linked hypophosphatemia(XLH) is the most common inherited disease related to phosphate metabolism, which might result in elevated levels of fibroblast growth factor 23 (FGF23). FGF23 plays an important role in the disease mechanism, so a human anti-FGF23 antibody is developed as a potential treatment for XLH.In many clinical trials, subcutaneous Burosumab increased serum phosphorus levels in pediatric and adult patients with XLH.With the development of phase 1-3 clinical trials of Burosumab in children and adults with XLH, the efficacy and safety of Burosumab is proven to be superior to that of phosphate and calcitriol used in traditional therapy.This review aims to investigate the physiopathology and treatment of HR and to enhance the recognition of HR.

Diagnosis and Exclusion of Secondary Causes of Osteoporosis

@#Osteoporosis is a major health concern and treatment of primary osteoporosis with anti-osteoporosis medications is needed to reduce fracture risk and burden. Before initiating anti-osteoporosis medications, secondary causes of osteoporosis should be considered and satisfactorily excluded. However, it can be challenging to differentiate primary osteoporosis from secondary osteoporosis, especially in patients with paucity of symptoms or who have less common clinical presentation. Hence, practical tips like Appropriate Care Guide on Osteoporosis forms the basis of initial secondary osteoporosis workup for primary care physicians. Snapshots of secondary osteoporosis are briefly discussed to facilitate “pattern recognition”.

Approach to the patient with vitamin D-deficient osteomalacia due to X-linked agammaglobulinemia / 中华内分泌代谢杂志

Osteomalacia is a metabolic bone disease characterized by impaired mineralization of bone matrix. VitaminD deficiency contributes to a decrease in the efficiency of intestinal calcium and phosphorus absorption, resulting in secondary hyperparathyroidism and an inadequate calcium-phosphorus product, thereby causing osteomalacia. We present a patient who was diagnosed as vitamin D-deficient osteomalacia due to X-linked agammaglobulinemia ( XLA) , and the genetic analysis of the BTK gene revealed a missense mutation ( c.82C>T) . It should be attached great importance to etiological analysis of osteomalacia, and XLA may also be a cause of vitamin D deficiency.

Application of 68 Ga-DOTATATE PET/CT imaging combined with MRI in the diagnosis of tumor-induced osteomalacia / 中华核医学与分子影像杂志

Objective To evaluate the effect of 68 Ga-1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic acid-D-Phe1-Tyr3-Thr8-octreotide ( DOTATATE) PET/CT imaging combined with MRI on im-proving the diagnostic efficiency for tumor-induced osteomalacia (TIO). Methods From March 2012 to October 2018, 159 patients (89 males, 70 females; age 17-59 years) who were suspected with TIO and underwent both 99 Tcm-hydrazinonicotinamide-Tyr3-octreotide ( HYNIC-TOC ) SPECT imaging and 68 Ga-DOTATATE PET/CT imaging were recruited into this retrospective study. Lesions presenting abnormal in-creased focal uptake in any part of the body were suspected of culprit tumors, excluding those induced by fractures and inflammation. Based on the suspicious culprit lesions detected by 68 Ga-DOTATATE PET/CT imaging, 80 patients underwent corresponding MRI. The lesion presenting as the space-occupying nodule or mass with abnormal signal on MR image was diagnosed as the TIO culprit lesion. Compared with the results of pathological examination and clinical follow-up, the diagnostic efficiency of 99 Tcm-HYNIC-TOC SPECT imaging and 68 Ga-DOTATATE PET/CT imaging and the combination of 68 Ga-DOTATATE PET/CT imaging and MRI for TIO were analyzed. Results Of 159 patients, 135 were confirmed with TIO and 24 were with non-TIO. 99 Tcm-HYNIC-TOC SPECT imaging accurately diagnosed 92 TIO patients and 22 non-TIO pa-tients, with the sensitivity, specificity and accuracy of 68.1％(92/135), 91.7％(22/24) and 71.7％(114/159) respectively. 68 Ga-DOTATATE PET/CT imaging accurately diagnosed 134 TIO patients and 19 non-TIO patients, with the sensitivity, specificity and accuracy of 99.3％(134/135), 79.2％(19/24) and 96. 2％(153/159) respectively. A total of 74 TIO and 5 non-TIO patients were accurately diagnosed by 68Ga-DOTATATE PET/CT imaging combined with MRI, with the sensitivity, specificity and accuracy of 98.7％(74/75), 5/5 and 98.8％(79/80). Conclusion 68Ga-DOTATATE PET/CT imaging shows higher sensi-tivity than 99 Tcm-HYNIC-TOC SPECT imaging in diagnosing TIO, and the combination of 68 Ga-DOTATATE PET/CT imaging and MRI can improve the specificity and accuracy.

Uveítis anterior aguda asociada a raquitismo renal hipofosfatémico / Acute anterior uveítis associated to hypophosphatemic renal ricketts

Los raquitismos hipofosfatémicos hereditarios son un grupo de enfermedades caracterizadas por la pérdida renal de fosfatos. Cursan con hipocrecimiento disarmónico y deformidades óseas. La forma más común es el raquitismo hipofosfatémico ligado al cromosoma X, el cual es causado por mutaciones inactivantes en el gen PHEX. El objetivo de nuestro trabajo fue describir las alteraciones oculares encontradas y la evolución clínica en un paciente con raquitismo hipofosfatémico hereditario y uveítis anterior. Se presenta un niño de 9 años de edad con diagnóstico de raquitismo hipofosfatémico hereditario, valorado en el Servicio de Uveítis del Instituto Cubano de Oftalmología Ramón Pando Ferrer por presentar dolor ocular y molestias a la luz en el ojo derecho. En la exploración oftalmológica se constata una uveítis anterior con hipopión en el ojo derecho y depósitos de cristales en todo el espesor corneal y el iris en ambos ojos. Se indicaron esteroides tópicos con resolución del proceso inflamatorio. Los hallazgos en el segmento anterior del paciente son sugestivos de cistinosis, donde el acúmulo de cristales es la alteración corneal más típica de las manifestaciones oculares, con una incidencia del 90 por ciento en niños menores de un año, y los primeros órganos afectados son los riñones. Los raquitismos hipofosfatémicos hereditarios pueden cursar con depósitos de cristales corneales y procesos inflamatorios de la úvea anterior(AU)

Hereditary hypophosphatemic rickets are a group of diseases characterized by renal loss of phosphates. They appear with disharmonic hypogrowth and bone deformities. The most common form is the X-chromosome-linked hypophosphatemic rickets which is caused by inactivating mutations in PHEX gene. The objective of our work was to describe the ocular alterations and the clinical evolution in a patient with hereditary hypophosphatemic rickets and previous uveitis. Here is the case of a 9 years-old boy diagnosed with hereditary hypophosphatemic rickets, who was seen at the Uveitis Service of Ramon Pando Ferrer Cuban Institute of Ophthalmology. He presented with ocular pain and feeling of discomfort to light in his right eye. The ophthalmological exam yielded anterior uveitis with hypopyon in his right eye and crystal depots in the whole corneal thickness and the iris of both eyes. Topical steroids were prescribed to treat the inflammatory process. The findings in the anterior segment of the patients indicated the presence of cystinosis in which the accumulation of crystals is the most typical corneal alteration among the ocular manifestations. Its incidence reaches 90 percent in under one year-old children and the first affected organs are the kidneys. The hereditary hypophosphatemic rickets may appear with corneal crystal depots and inflammatory processes in the anterior uvea(AU)

Estudio Descriptivo: Niveles de 25 ­ Hidroxi Vitamina D en la Población que Acude al Servicio de Endocrinología del Instituto Ecuatoriano de Seguridad Social, Azogues ­ Ecuador, 2017 / Restrospective Research: Levels of 25 - Hydroxy Vitamin D in the population that goes to the Endocrinology Service of the Ecuadorian Institute of Social Security, Azogues - Ecuador, 2017

INTRODUCCIÓN: La Vitamina D es considerada una hormona, siendo químicamente liposoluble y se le relaciona con enfermedades inmunológicas, cardiometabólicas y cáncer. El objetivo es evaluar los niveles de 25 hidroxi vitamina D en los pacientes que acudieron al servicio de endocrinología. MÉTODOS: Se trata de un estudio retrospectivo, se tomaron 122 pacientes que acudieron al servicio de endocrinología del Instituto Ecuatoriano de Seguridad Social, durante el periodo durante el periodo de julio a septiembre del 2017. RESULTADOS: El promedio de vitamina D 23.99 ± 9.12 ng/ml, el 22 % presentaron vitamina D en rango normal (≥ 30 ng/ml) y el 78 % en insuficiencia/deficiencia (< 30 ng/ml). Los niveles de calcio y paratiroides no presentaron correlación con las disminuciones de vitamina D. CONCLUSIONES: Existe una importante disminución de la vitamina D en la población que acudió al servicio de Endocrinología durante el periodo estudiado, pese a la exposición solar directa que reciben los pobladores de la zona.

BACKGROUND: Vitamin D is considered a hormone, being chemically lipid soluble and is related to immunological, cardiometabolic and cancer diseases. This aim to evaluate the levels of 25 hydroxy vitamin D in the patients who attended the endocrinology service. METHODS: This was a retrospective study, taking 122 patients who attended the endocrinology service of the Ecuadorian Social Security Institute, during the period during the period from July to September 2017. RESULTS: The average of vitamin D was 23.99 ± 9.12 ng / ml, 22 % of vitamin D in normal range (≥ 30 ng / ml) and 78 % of insufficiency / deficiency (≥ 30 ng / ml). Calcium and parathyroid levels show no correlation with decreases in vitamin D. CONCLUSIONS: There is a significant decrease in the population in the population that went to the Endocrinology service during the period studied, to the direct solar incidence that the inhabitants of the area.