Reporte de un caso de Cistinuria: Uso de herramientas de diagnóstico a nivel nacional / Report of a case of cystinuria: Use of diagnostic tools at national level

La cistinuria es una enfermedad genética que se engloba dentro de alteraciones congénitas del transporte de aminoácidos con formación de cálculos en las vías urinarias, si bien es poco frecuente se caracteriza por su elevada recurrencia. En este trabajo presentamos el caso de una paciente de 34 años, con antecedentes de haber perdido un riñón por episodios anteriores de litiasis y con múltiples recidivas que es diagnosticada mediante la detección de cistina por espectroscopía infrarroja como componente único de 96 fragmentos de cálculos removidos mediante nefrolitotomía percutánea. La paciente fue evaluada laboratorialmente mediante el perfil metabólico y la cristaluria. Las indicaciones de tratamiento específicas incluyeron la administración de agentes alcalinizantes, régimen nutricional, y entrenamiento para control de pH urinario. Es importante señalar la agresividad de la litiasis de cistina con las consecuencias que puede tener la calidad de vida del paciente, y por tanto la importancia de contar con capacidades instaladas a nivel país para el diagnóstico y seguimiento de litiasis genéticas como la causada por la cistinuria(AU)

Cystinuria is a genetic disease that is included among congenital defects of renal amino acids transport that causes urinary stone formation. Although it is rare, it is characterized by its high recurrence. We present the case of a 34-year-old patient that lost one of her kidney because of recurrent episodes of lithiasis, and that was diagnosed by the detection of cystine with infrared spectroscopy as the sole component of 96 stone fragments removed by percutaneous nephrolithotomy. The patient was evaluated by metabolic profile and crystalluria. The specific treatment indications included the administration of alkalinizing agents, nutritional regimen, and training for personal measurement of urinary pH. This case highlights the aggressiveness of cystine stones with the consequences that may have on the quality of the patient life, and therefore the importance of having installed proper diagnostic capacities at national level to detect and monitor treatment efficacy in genetic lithiasis such as cystinuria(AU)

Renal Replacement Lipomatosis Associated with Renal Calculus-Incidentally Detected at Autopsy: A Case Report of Two Cases.

Renal replacement lipomatosis (RRL) is a rare benign condition of the kidney in which there is proliferation of fat within renal sinus, hilum and peri-renalspace, thus replacing the renal parenchyma. The pathogenesis of RRL is unknown, although it is generally associated with aging, renal atrophy, long-standing chronic urinary infections. We report two cases of RRL, one of right kidney and other left, both of them associated with kidney stones. The patients were 45 and 65 years old respectively andwere admitted with fever and pain in abdomen. Autopsy performed showed right RRL associated with staghorn calculus and pulmonary tuberculosis in the first patient and left RRL with renal calculus in the pelvis and left pyelonephritis with perinephric abscess and right sided pyelonephritis in the second patient.

Calcium renal lithiasis: metabolic diagnosis and medical treatment / Litiase renal cálcica: diagnóstico metabólico e tratamento médico

Calcium renal lithiasis is a frequent condition that affects the worldwide population and has a high recurrence rate. Different metabolic changes may trigger the onset of calcium stone disorders, such as hypercalciuria, hyperoxaluria, hyperuricosuria, hypocitraturia and others. There are also other very prevalent disorders that are associated with calcium calculi, such as arterial hypertension, obesity and loss of bone mineral density. A correct diagnosis needs to be obtained through examining the serum and urinary parameters of mineral metabolism in order to carry out adequate prevention and treatment of this condition. Once the metabolic diagnosis is known, it is possible to establish dietary and pharmacological treatment that may enable monitoring of the disease and prevent recurrence of stone formation. Some advances in treating this pathological condition have been made, and these include use of sodium alendronate in patients with calcium renal lithiasis and osteopenia/osteoporosis, or use of a combination of a thiazide with a bisphosphonate. In summary, calcium renal lithiasis often requires multidrug treatment with strict control and follow-up of patients.

Litíase renal cálcica é uma doença comum que afeta a população no mundo todo e tem alta taxa de recorrência. Diferentes alterações metabólicas podem desencadear o aparecimento de distúrbios de pedras de cálcio, como hipercalciúria, hiperoxalúria, hiperuricosúria, hipocitratúria e outros. Existem também doenças altamente prevalentes associadas à doença de cálculo de cálcio, como hipertensão, obesidade e perda de densidade óssea mineral. Para realizar prevenção e tratamento adequados, é necessário diagnóstico correto, examinando o metabolismo mineral sérico e urinário. Depois de conhecer o diagnóstico metabólico, é possível estabelecer um tratamento dietético e farmacológico que permita controlar a doença e prevenir a recorrência de cálculos biliares. Há alguns avanços no tratamento dessa doença e incluem o uso de alendronato de sódio em pacientes com nefrolitíase de cálcio e osteopenia/osteoporose, ou a combinação de um tiazídico com um bifosfonato. Em resumo, litíase renal cálcica exige, muitas vezes, um tratamento multidroga com rigorosos controle e acompanhamento de pacientes.

Normocalcemic primary hyperparathyroidism in clinical practice: an indolent condition or a silent threat? / Hiperparatireoidismo primário normocalcêmico na prática clínica: condição indolente ou ameaça silenciosa?

OBJECTIVE: To describe the characteristics of normocalcemic primary hyperparathyroidism (NPHPT) in patients seen for osteoporosis evaluation. PATIENTS AND METHODS: We examined the records of 156 women who came to the hospital to be screened for osteoporosis. Measurements of total calcium, PTH, 25-hydroxy vitamin D, and β-C-telopeptide were recorded. Bone mineral density and T-scores were evaluated by densitometry of the lumbar spine, femoral neck and distal one-third of the radius. The latter was only measured in patients with primary hyperparathyroidism. Nephrolithiasis and bone fractures were documented by a review of the medical records. RESULTS: We identified 14 patients with NPHPT, accounting for 8.9 percent of the population studied. In the medical records, the occurrence of kidney stones was reported in 28.6 percent of the patients with NPHPT, in contrast with only 0.7 percent of the noncarriers. Regarding the presence of general fractures, 21.4 percent of the patients with NPHPT were affected versus 16.2 percent of noncarriers. CONCLUSION: Data from our study suggest that NPHPT has a diverse phenotypic presentation, implying that this may not be an "indolent" disease.

OBJETIVO: Avaliar as características do hiperparatireoidismo primário normocalcêmico (HPTPN) em pacientes atendidos para avaliação de osteoporose. PACIENTES E MÉTODOS: Foi realizada análise de um banco de dados de 156 mulheres que procuraram atendimento para avaliação de osteoporose. Todas apresentavam dosagem de cálcio sérico, PTH, 25-hidroxi-vitamina D e C-telopeptídeo. A densidade mineral óssea e escore-T foram avaliados por meio de densitometria óssea de coluna lombar, colo do fêmur e rádio distal, este último apenas em pacientes com hiperparatireoidismo renal primário. Nefrolitíase e fraturas ósseas foram documentadas pela revisão dos prontuários. RESULTADOS: Foram identificadas 14 pacientes com HPTPN, correspondendo a 8,9 por cento da população estudada. Nos registros médicos, o relato da existência de litíase renal ocorreu em 28,6 por cento dos portadores de HPTN em contraste com apenas 0,7 por cento nas mulheres não portadoras, com um p < 0,001. CONCLUSÃO: Os dados do estudo sugerem que HPTPN tem uma apresentação fenotípica variada, podendo não ser uma patologia "indolente".

Evaluación metabólica y nutricional en litiasis renal / Metabolic and nutritional evaluation in nephrolithiasis

Los pacientes con litiasis renal requieren de investigaciones para identificar las condiciones médicas subyacentes y otras anomalías metabólicas predisponentes. Los resultados de estas investigaciones se utilizan para guiar el tratamiento preventivo. La profundidad del estudio necesario depende de varios factores, incluyendo la edad, la historia clínica de la persona y el número y la frecuencia de los cálculos. Una variedad de factores dietéticos y metabólicos pueden contribuir o causar la formación de litiasis renal. Los factores dietéticos incluyen una alta ingesta de proteínas animales, oxalato y sodio, y una baja ingesta de líquidos y de productos cítricos que contienen potasio. Las alteraciones metabólicas más frecuentemente asociadas a litiasis son la hipercalciuria, la hipocitraturia, la gota, la hiperoxaluria y la hiperuricosuria. Las modificaciones en la dieta deben aplicarse en todos los pacientes con litiasis renal, y consisten en una elevada ingesta de líquidos, la restricción de oxalato y sodio, una dieta balanceada en proteínas animalesy complementadas por una ingesta adecuada de frutas y verduras. Cuando las modificaciones en la dieta no son suficientes en prevenir la formación de litiasis o en la presencia de alteraciones metabólicas importantes, es necesaria una intervención farmacológica especifica.

People who form kidney stones require investigations to identify underlying medical conditions and to detect other predisposing metabolic abnormalities. The results of these investigations can also be used to help guide therapy to prevent future stone formation. The extent of testing required dependson several factors including age and medical history of the person and the number and frequency of stones. A variety of dietary and metabolic factors may contribute or cause stone formation in nephrolithiasis. Dietary factors include a high intake of animal proteins, oxalate and sodium, and a low intake of fluids and potassium containing citrus products. Some of the metabolic causes of stones are hypercalciuria, hypocitraturia, gout, hyperoxaluria, and hyperuricosuria. Dietary modification, to be applied in all patients with stones includes a high fluid intake, restriction of oxalate and sodium, and balanced diet with animal proteins complemented by adequate intake of fruits and vegetables. When dietary modification is ineffective in controlling stone formation or in the presence of severe metabolic derangements, a pharmacologic intervention may be necessary.

Rhazes, a genius physician in diagnosis and treatment of kidney calculi in medical history

Abu Bakr Mohammad Ibn Zakariya Razi, known in the west as Rhazes [865 to 925 AD], was born in the ancient city of Rayy, near Tehran, Iran. He was a renowned physician in medical history and not only followed Hippocrates and Galen, but also greatly extended the analytical approach of his predecessors. Based on the existing documents, he was known as the most distinguished character in the world of medicine up to the 17th century. A great number of innovations and pioneering works in the medical science have been recorded in the name of Rhazes. His fundamental works in urology as part of his research in the realm of medicine have remained unknown. Pathophysiology of the urinary tract, venereal diseases, and kidney and bladder calculi are among his main interests in this field. He also purposed and developed methods for diagnosis and treatment of kidney calculi for the first time in medical history. He also presented a very exact and precise description of neuropathic bladder followed by vertebral fracture. He advanced urine analysis and studied function and diseases of the kidneys. Rhazes recommendations for the prevention of calculi are quite scientific and practical and in accordance with current recommendations to avoid hypercalciuria and increased saturation of urine. Rhazes was not only one of the most important Persian physician-philosophers of his era, but for centuries, his writings became fundamental teaching texts in European medical schools. Some important aspects of his contributions to medicine are reviewed

Crossed fused renal ectopia with staghorn calculus and gross hydronephrosis

Crossed fused renal ectopia is a rare renal anomaly. Formation of staghorn and struvite calculi within it has never been reported in local literature. A 25-year-old man with macrohematuria and right flank pain was admitted to the hospital. An intravenous pyelography revealed right sided crossed fused ectopic kidney showing a staghorn and struvite calculi in upper-moiety along with gross hydronephrosis. Patient was conservatively managed after exclusion of other congenital anomalies

Urological novelties

Though surgery remains the major activity of most urologist, in 2005 and 2006 the progress in urology was obtained in the field of diagnosis and medical treatment. To create a comprehensible picture, we divided urology in smaller subspecialties like kidney stones, urological oncology, incontinence, other voiding disorders and erectile dysfunction. Obvious improvements in the diagnostic approach and therapeutic planning are presented

Tratamiento a largo plazo con citrato de potasio en pacientes nefrolitiásicos adultos con hipocitraturia o diátesis gotosa / Long-Term treatment of adult nephrolithiasis patients with hypocitraturia or gouty diathesis with potassium citrate

Pocos estudios han evaluado el tratamiento a largo plazo con citrato de potasio en pacientes con nefrolitiasis por oxalato de calcio o ácido úrico cuyos factores de riesgo metabólico urinario son hipocitraturia o diátesis gotosa. Nosotros evaluamos retrospectivamente las historias clínicas de 92 pacientes adultos con litiasis renal recurrente cuyos factores de riesgo metabólico eran hipocitraturia aislada o diátesis gotosa que fueron tratados con citrato de potasio 30 a 60 meq/día, una a dos veces por día, por más de 3 meses.... Concluimos que el tratamiento con citrato de potasio efectivamente corrige los trastornos metabólicos en pacientes con hipocitraturia y diátesis gotosa con una disminución asociada en el calcio urinario y que estos efectos son sostenidos en el tiempo.

Few studies have evaluated the long term treatmente with potassium citrate in patients with calcium oxalate o uric acid nephrolithiasis whose urine metabolic risk factores were hypocitraturia or gouty diathesis. We retrospectively reviewed the charts of 92 adult patients with recurrent renal stones whose urine metabolic risk factores were either hypocitraturia or gouty diathesis who were treated with potassium citrate 30 at 60 meq/d one or two times daily, for more than 3 months... We conclude that potassium citrate effectively corrects metabolic derangements in patients with hypocitraturia and couty diathesis with an associated decrease in urinary calcium and these effects were sustained in time.

Cólica renal / Renal colic

Artigos de emergência em Medicina sugerem que 90 por cento dos cálculos menores do que 5mm e 15 por cento dos cálculos com 5mm a 8 mm são eliminados espontaneamente com quatro semanas, enquanto 95 por cento daqueles maiores de 8mm requerem intervenção urológica. Pesquisas recentes mostram que a terapia médico-expulsiva pode aumentar a taxa de eliminação para cálculos de 10mm, reduzir a perda de dias de trabalho, visitas médicas e evitar procedimentos para a sua remoção.

Text the emergency medicina suggests that 90 percent of stones less than 5mm and 15 percent of stones between 5mm and 8mm will pass spontaneously within 4 weeks. while 95 percent of those larger than 8mm will require urological intervention. Recent research shows that medical expulsive therapy can increase the expulsion rate for stones up to 10mm and decrease the expulsion time there by reducing lost workdays, medical visits and avoidable stone removal procedures.

Litiasis renal: modificaciones bioquimicas durante el seguimiento / Renal lithiasis: biochemical changes in the follow-up

Con el objeto de evaluar si se producen modificaciones bioquímicas durante el seguimiento de pacientesnefrolitiásicos, se estudiaron 237 pacientes (115 mujeres y 122 hombres con una edad promediode 39 ± 8 y 42 ± 7 años respectivamente) controlados durante 23.7 ± 19.3 meses. A todos se les realizó un estudio metabólico de litiasis renal inicial y como mínimo uno o más posteriormente con las mismas características que el basal. No fueron incluidos pacientes con los diagnósticos de riñón en esponja, acidosis renotubular, hiperparatiroidismo primario, malformaciones renales o infecciones urinarias. Del total de pacientes, 139 (Grupo I) presentaron en el seguimiento una modificación metabólica no evidenciada en el estudio inicial, mientras que 98 (Grupo II) no. El tiempo de seguimiento de los primeros, no fue significativamente diferente de aquellos que no modificaron el diagnóstico basal. Las alteraciones bioquímicas agregadas más frecuentes fueron, hipocitraturia en el 43.1%, hipercalciuria idiopática en 20.8% y alteraciones del ácido úrico en 16.5%. De 110 pacientes seguidos más de 3 años, 37 (33%) recurrieron. De éstos, 25 (23%) modificaron el diagnóstico metabólico basal vs. 12 (11%) que mantuvieron el mismo diagnóstico (p < 0.002). Cambios en las alteraciones bioquímicas fueron observados con frecuencia en el seguimiento de pacientes con nefrolitiasis. Estos cambios no se asocian necesariamente a la dieta o a las drogas administradas. La hipocitraturia fue el diagnóstico bioquímico más frecuentemente agregado. Observamos mayor recurrencia en aquellos que modificaron el diagnóstico inicial y cuya modificación no fue corregida durante el seguimiento.

With the aim of assessing if biochemicalchanges occur in the follow up of patients with renal lithiasis, 237 patients were studied (115 womenand 122 men, mean age 39 ± 8 and 42 ± 7 years, respectively) and controlled during 27.3 ± 19.3 months. All ofthem had previously undergone metabolic evaluations at baseline and one or more than one control studies afterwards. Patients with a diagnosis of sponge kidney, renal tubular acidosis, primary hyperparathyroidism, anatomical malformations of the urinary tract, or urinary infections were not included. Two populations were identified: those who presented changes in the baseline diagnosis (139 patients, Group I) and those who presentedno changes (98 patients, Group II). In these groups, no differences were observed in baseline metabolic diagnoses or in the follow-up period. Hypocitraturia was the additional diagnosis most frequently observed (43.1%), followed by Idiopatic hypercalciuria (20.8%) and abnormalities of uric acid (16.5%). In the group of 110 patients followed up for more than 3 years, 37 patients recurred (33%). Among the latter, 25 (23%) changed the baseline metabolic diagnosis vs. 12 (11%) that maintained the same diagnosis (p < 0.002). Changes in metabolic disorders were frequently observed in the follow up of patients with nephrolithiasis. These changes are not necessarily associated with the diet indicated or drug treatment. Hypocitraturia was the additional metabolic disorder mostfrequently found. In general, there is a higher recurrence rate in those patients who present changes in their biochemical parameters and undergo no treatment.

Ocho años de experiencia en el tratamiento de la litiasis renoureterales mediante litotricia extracorpórea con Litotriptor electrohidráulico (Tripter compac) / An eight-year experience with the treatment of renouretheral lithiasis using extracorporeal lithotripsy with electro-hydraulic lithotritor (Triper compac)

Urinary lithiasis is one fo the most frequent disorder of the urinary tract, predominant in males and in their formation are involucrate many factors such as age, inheritance, diet, scant ingestion of fluids and sedentarity. Extracorporeal lithotripsy has become the method of choice for urinary lithiasis. The objective of this report is to present the author's experience with the treatment of urinary lithiasis using extracorporeal wave lithotripsy. From 1997 through 2005 we have treated 1456 patients suffering renouretheral lithiasis with our equipment Triper compac. Successful results were obtained in 96 por ciento in interior uretheral calculi, 94 por ciento for medial calculi and 96 por ciento for upper calculi. Several references related to this procedure are commented in the article

Evaluation of different modalities for surgical management of renal stones

There is no single method suitable for the removal of all renal stones. The goal of surgical stone management is to achieve maximal stone clearance with minimal morbidity to the patient. The aim of the work is to evaluate different modalities as extracorporeal shock wave lithotripsy [ESWL], percutaneous nephrolithotomy [PNL] and open stone surgery [OSS] in the management of renal stones in patients attending our department in one year. This study was conducted on 200 patients with renal calculi. The patients were divided into three groups: group A [100 patients] underwent ESWL, group B [50 patients] had PNL and group C [50 patients] had OSS. They were completely evaluated by histor, physical examination, laboratory and radiological investigation. Patients were evaluated postoperatively by KUB, US and urinalysis at 1 day, 2 week up to 3 months. Comparing the results in the three groups revealed that the total stone free rate [SFR] in them is nearly equal 90%, 88% and 88% in group A, B and C respectively. On the other hand comparing the results in the three groups in relation to the stone characteristics [burden, number and fresh or recurrent] revealed that the SFR in them is nearly equal in single and small burden stone either fresh or recurrent. While with multiple and large stone burden [> 3 cm] PNL gives the best results [72.2 - 87.5%] especially with recurrent cases as a monotherapy, followed by open surgery [66.6- 80%] especially with fresh cases, then ESWL as it gives the least SFR [33.3-60%]. Stones less than 1 cm, ESWL is usually the primary approach. For stones between 1 - 2 cm, ESWL is still the first-line treatment unless factors of stone composition, location, or renal anatomy shift the balance toward more invasive but definitive treatment modalities [PNL or OSS]. Stones > 2 cm should primarily be treated by PNL, unless specific indications for OSS are present. Stones >3cm, multiple or staghorn better managed by sandwich technique [PNL and ESWL]

Sinais de uretelolitíase na tomografia computadorizada helicoidal sem contraste: ensaio iconográfico e revisão de literatura / Ureterolithiasis signs on unenhanced helical computed tomography: iconographic essay and literature review

O principal sinal diagnóstico de ureterolitíase na tomografia computadorizada é a visualização direta do cálculo no interior do ureter. Todavia, a sua caracterização pode ser prejudicada devido a suas pequenas dimensões, variação da respiração entre a aquisição dos cortes tomográficos, escassez de gordura retroperitoneal ou eliminação recente do cálculo. Neste contexto, foram descritos diversos sinais secundários de obstrução ureteral, observados na tomografia computadorizada, que podem auxiliar no diagnóstico de casos duvidosos, além de quantificar o grau de obstrução urinária.

Nanobacterias y la epidemiología de las litiasis renales / Nanobacteria and the epidemiology of the renal litiasis

Nanovesículas o nanoestructuras que semejan pequeñas bacterias de menos de 0.5 um de diámetro han sido encontradas como contaminantes de sueros comerciales provenientes de fetos bovinos y fueron responsables de efectos citotóxicos en monocapas celulares cultivadas in vitro. Posteriormente el agente fue cultivado y clasificado como Nanobacterium sanguineum, el cual se ha relacionado con la formación de cálculos renales y más recientemente con otras patologías asociadas a calcificación de tejidos. Por otra parte, otros científicios no aceptan la existencia de tal bacteria. Se quiere más investigación para determimar si estas nanoestructuras son realmente bacterias