RESUMEN
INTRODUCTION & OBJECTIVES: Percutaneous nephrostomy [1] has emerged as a pivotal approach in the therapeutic management of the obstructed urinary tract. A consecutive incorporation of ultrasonic and radiographic guidance, the approach experienced an almost ubiquitious distribution while most centers currently applying either one or both of these tools jointly. However, success of ultrasound-guidance is limited in obese patients and non-dilated uropathy. In turn, fluoroscopy usually requires an opacification of the urinary collecting system by intravenous or antegrade contrast media injection, which might be harmful for already impaired renal function, raise intrapelvic pressure and augment the risk of sepsis and hemorrhage. CT-guided PCN aids in overcoming these limitations. In the current study, we present the experience of a tertiary referral center with this technique. MATERIALS & METHODS: Epidemiological and clinical data of all patients treated with a CT-guided PCN of native kidneys at the University Hospital Frankfurt between October 2003 and October 2013 were retrospectively collected from the patient charts. Procedural parameters including radiological aspects, technical and therapeutic success, complication and mortality rate have been analyzed statistically. RESULTS: In total, 140 PCN procedures have been performed in 77 patients with a median age of 69 (± 13). The median body mass index was 27 with 66.6% of patients being overweight or obese. Charlson comorbidity index was 7 ranging 0-16. Indications for PCNs were obstructive uropathy (62.9), urine extravasation (22.9%), urinary tract fistulas (11.4%) and technical reasons (2.8%). In 68.8% of patients, initial diagnosis was malignancy. 56.4% of kidneys were non-dilated before puncture. In 78.4% prone position, otherwise supine oblique position (17.3%) or supine position (4.3%) was used. 71.4% of PCNs were carried out solely under local anesthesia. Technical success has been achieved in 90% with a complication rate of 3.6% (all grade minor B) and was not significantly different between dilated and non-dilated kidneys. 42.9% of fistulas and 64.3% of urinary tract leakages, healed after PCN placement. 30 days mortality rate was 5.2% without being directly associated with the PCN procedure itself. CONCLUSION: CT-guided PCN is a feasible approach associated with low morbidity. It is particularly useful in complex clinical scenarios e.g. critically ill, newly operated or obese patients as well as non-dilated kidneys. Moreover, it represents a minimally-invasive option for treating leakages and fistulas of the urinary tract.
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Nefrostomía Percutánea/métodos , Enfermedades Urológicas/cirugía , Anciano , Anestesia Local , Dilatación Patológica/cirugía , Estudios de Factibilidad , Femenino , Fluoroscopía/métodos , Humanos , Riñón/diagnóstico por imagen , Masculino , Obesidad/complicaciones , Sobrepeso/complicaciones , Radiografía Intervencional , Insuficiencia Renal/cirugía , Estudios Retrospectivos , Cirugía Asistida por Computador , Tomografía Computarizada por Rayos X/métodos , Ultrasonografía Intervencional , Enfermedades Uretrales/cirugíaRESUMEN
Context: Type 1A pseudohypoparathyroidism (PHP-1A) is characterized by target organ resistance to PTH. Patients can present with various dysmorphic features; however, renal failure has not been classically described. Case Description: A female patient came to our attention at the age of 7 years with characteristic signs of PTH resistance (i.e., hypocalcemia, hyperphosphatemia, and high serum PTH levels). She also presented with hypothyroidism, early-onset obesity, short metacarpal bones, and multiple subcutaneous ossifications, leading to a clinical diagnosis of pseudohypoparathyroidism. In addition to her genetic condition, she had bilateral renal hypodysplasia that was slowly progressing to end-stage kidney disease. She received a kidney transplant at the age of 16 years and, after transplantation, experienced rapidly normalized calcium, phosphate, and PTH levels, allowing f withdrawal of vitamin D supplementation. Conclusions: To the best of our knowledge, ours is the first report of a patient with PHP-1A undergoing kidney transplantation. Normalization of biochemical parameters after the procedure demonstrated that renal tubular resistance to PTH is sufficient to explain the calcium/phosphate abnormalities observed in PHP-1A.
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Túbulos Renales/fisiopatología , Hormona Paratiroidea/sangre , Seudohipoparatiroidismo/sangre , Insuficiencia Renal/fisiopatología , Calcio/sangre , Niño , Cromograninas/genética , Femenino , Subunidades alfa de la Proteína de Unión al GTP Gs/genética , Humanos , Trasplante de Riñón , Fosfatos/sangre , Seudohipoparatiroidismo/complicaciones , Seudohipoparatiroidismo/genética , Insuficiencia Renal/sangre , Insuficiencia Renal/etiología , Insuficiencia Renal/cirugía , Vitamina D/sangreAsunto(s)
Anestesia General/métodos , Anestesia Local/métodos , Trasplante de Corazón/tendencias , Insuficiencia Renal/cirugía , Reemplazo de la Válvula Aórtica Transcatéter/métodos , Disfunción Ventricular Izquierda/cirugía , Anciano , Estenosis de la Válvula Aórtica/complicaciones , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Estenosis de la Válvula Aórtica/cirugía , Manejo de la Enfermedad , Humanos , Masculino , Insuficiencia Renal/complicaciones , Insuficiencia Renal/diagnóstico por imagen , Receptores de Trasplantes , Disfunción Ventricular Izquierda/complicaciones , Disfunción Ventricular Izquierda/diagnóstico por imagenRESUMEN
OBJECTIVE: To assess whether patient factors, such as age and preoperative kidney function, were associated with receipt of partial nephrectomy in a national integrated healthcare system. MATERIALS AND METHODS: We identified patients treated with a radical or partial nephrectomy from 2002 to 2014 in the Veterans Health Administration. We examined associations among patient age, sex, race or ethnicity, multimorbidity, baseline kidney function, tumor characteristics, and receipt of partial nephrectomy. We estimated the odds of receiving a partial nephrectomy and assessed interactions between covariates and the year of surgery to explore whether patient factors associated with partial nephrectomy changed over time. RESULTS: In our cohort of 14,186 patients, 4508 (31.2%) received a partial nephrectomy. Use of partial nephrectomy increased from 17% in 2002 to 32% in 2008 and to 38% in 2014. Patient race or ethnicity, age, tumor stage, and year of surgery were independently associated with receipt of partial nephrectomy. Black veterans had significantly increased odds of receipt of partial nephrectomy, whereas older patients had significantly reduced odds. Partial nephrectomy utilization increased for all groups over time, but older patients and patients with worse baseline kidney function showed the least increase in odds of partial nephrectomy. CONCLUSION: Although the utilization of partial nephrectomy increased for all groups, the greatest increase occurred in the youngest patients and those with the highest baseline kidney function. These trends warrant further investigation to ensure that patients at the highest risk of impaired kidney function are considered for partial nephrectomy whenever possible.
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Carcinoma de Células Renales/cirugía , Neoplasias Renales/cirugía , Nefrectomía/estadística & datos numéricos , Adulto , Factores de Edad , Anciano , Carcinoma de Células Renales/complicaciones , Carcinoma de Células Renales/patología , Creatinina/sangre , Femenino , Humanos , Neoplasias Renales/complicaciones , Neoplasias Renales/patología , Modelos Logísticos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Selección de Paciente , Insuficiencia Renal/diagnóstico , Insuficiencia Renal/etiología , Insuficiencia Renal/cirugía , Estudios Retrospectivos , Factores Socioeconómicos , VeteranosRESUMEN
BACKGROUND: Congenital hypoparathyroidism can be severely debilitating for patients, leading to renal failure at young age. Parathyroid transplantation may represent a permanent parathyroid replacement therapy. In patients already on immunosuppression for other organ transplant, there is little additional risk involved with parathyroid allotransplantation. METHODS: Robotic assisted transaxillary single parathyroidectomy is performed on a living donor also donating a kidney to her sibling. RESULTS: Recipient total serum PTH levels became detectable after 3 days from the procedure and maintained for 9 months after transplant with minimal calcium supplementation after the procedure. Literature review and previous results are summarized. CONCLUSIONS: Obtaining a parathyroid gland and a kidney from the same donor reduces the exposure to different HLA antigens. The combined procedure using minimally invasive surgery is safe, with the additional cosmetic advantage and convenience for the willing donor. In the setting of need for immunosuppression, additional transplantation to treat the cause is safe and justified in the recipients.
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Trasplante de Riñón/métodos , Donadores Vivos , Nefrocalcinosis/cirugía , Glándulas Paratiroides/cirugía , Glándulas Paratiroides/trasplante , Paratiroidectomía/métodos , Adulto , Calcio/uso terapéutico , Femenino , Antígenos HLA/química , Humanos , Terapia de Inmunosupresión , Inmunosupresores/uso terapéutico , Riñón/patología , Hormona Paratiroidea/sangre , Insuficiencia Renal/cirugía , Procedimientos Quirúrgicos Robotizados , Hermanos , Trasplante Homólogo , Adulto JovenRESUMEN
OBJECTIVE: To study the protective effects of Dongchongxiacao (Cordyceps) (DCXC) on contrast-induced nephropathy (CIN) in patients with type 2 diabetes and renal insufficiency undergoing coronary angiography. METHODS: A total of 120 patients with type 2 diabetes whose estimated glomerular filtration rater (eGFR) was 60 mL/min · 1.73 in2, were divided randomly into three groups, basic treatment group (n = 41), standard DCXC therapy group (n = 39, 2-g corbrin capsules, 3 times/d, 3 days before and after angiography), and intensive DCXC therapy group (n = 40, 3-g corbrin capsules, 3 times/d, 3 days before and after angiography). Serum creatinine (cr) and eGFR were assessed at the time of admission to hospital, and on days 1, 2 and 3 after angiography. Urine neutrophil-gelatinase-associated-lipo- calin (NGAL), kidney injury molecule-1 (KIM-1) and interleukin-18 (IL-18) were measured before angiography and at day 1 after angiography for all patients. The primary end point was the prevalence of CIN. The secondary end point was a 25% or greater reduction in eGFR. RESULTS: CIN occurred in 11 of 120 patients (9.17 %). The prevalence of CIN was lower in the DCXC treatment groups than in the basic treatment group (P < 0.05), with a more significant decrease in the prevalence of CIN in the intensive DCXC therapy group (P < 0.01). Compared with the basic treatment group, a lower proportion of patients in the DCXC treatment groups had an eGFR decrease of 25% or greater (P < 0.05); patients with an eGFR decrease of 25% or greater accounted for an even lower proportion in the intensive DCXC therapy group (P < 0.01). Within 1 day of the procedure, urine levels of KIM-1, NGAL and IL-18 in patients in the intensive DCXC therapy group were lower than those in the basic treatment group and standard therapy group (P < 0.05). CONCLUSION: DCXC treatment may protect against CIN in patients with type 2 diabetes and renal insufficiency undergoing coronary angiography, with intensive DCXC therapy being more effective.
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Medios de Contraste/efectos adversos , Cordyceps/química , Diabetes Mellitus Tipo 2/complicaciones , Nefropatías Diabéticas/prevención & control , Medicamentos Herbarios Chinos/administración & dosificación , Insuficiencia Renal/complicaciones , Adulto , Anciano , Angiografía Coronaria , Diabetes Mellitus Tipo 2/cirugía , Nefropatías Diabéticas/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Insuficiencia Renal/cirugía , Adulto JovenRESUMEN
NC, with renal failure secondary to bilateral dysplastic kidneys, received an LRD renal transplant (tx) at 17 months of age. Her early post-tx course was complicated by persistently elevated blood polyoma BK virus DNA loads. A protocol biopsy at six months post-transplant revealed BKVAN. Blood viral loads did not respond to decreased immunosuppression or treatment with ciprofloxacin and leflunomide. Six months post-tx, her serum creatinine began to rise and we sought experimental therapy to prevent the loss of her graft. At seven months post-tx, with FDA approval under an eIND, the patient was started on a 36-wk course of treatment with the investigational drug. The patient is now more than 24 months after stopping treatment with CMX. BKV viral DNA loads remain at low, but still detectable levels. Urine viral loads have declined, but remain elevated. EBV DNA loads become undetectable. The patient's serum creatinine has declined back to a baseline of 0.5-0.7 mg/dL and has been stable for two yr. Renal function was preserved in association with the use of CMX001 to treat BKV nephropathy in a young pediatric kidney transplant recipient. There were no serious adverse events associated with the use of CMX001. This novel medication may be of value in the treatment of BKVAN in pediatric renal transplant recipients.
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Virus BK , Citosina/análogos & derivados , Trasplante de Riñón , Organofosfonatos/uso terapéutico , Insuficiencia Renal Crónica/virología , Insuficiencia Renal/complicaciones , Insuficiencia Renal/cirugía , Administración Oral , Biopsia , Preescolar , Ciprofloxacina/uso terapéutico , Creatinina/sangre , Citosina/uso terapéutico , ADN Viral/análisis , Femenino , Humanos , Inmunosupresores/uso terapéutico , Isoxazoles/uso terapéutico , Leflunamida , Carga ViralRESUMEN
Serum receptor activator of nuclear factor-κ B ligand and osteoprotegrin are mediated to vascular calcification in the general population. Our knowledge is very sparse in hemodialysis and renal transplant patients. Receptor activator of nuclear factor-κ B ligand, osteoprotegrin, intact parathyroid hormone, calcium, and phosphorus were measured in blood samples of 45 hemodialysis and 45 age-matched renal transplant patients. Osteoprotegrin (P = 0.001) and intact parathyroid hormone (P = 0.001) levels in the hemodialysis patients were higher than the renal transplant recipients. Osteoprotegrin had positive correlation with duration of dialysis and age in the hemodialysis (r = 0.88, P = 0.001 and r = 0.34, P = 0.02, respectively) and renal transplant patients (r = 0.92, P = 0.001 and r = 0.46, P = 0.001, respectively). Hemodialysis patients have higher osteoprotegrin levels than the renal transplant recipients. It may act as a protective factor for renal osteodystrophy or only as a secondary phenomenon of advanced renal failure.
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Trasplante de Riñón , Osteoprotegerina/sangre , Hormona Paratiroidea/sangre , Ligando RANK/sangre , Diálisis Renal , Adulto , Factores de Edad , Calcinosis/patología , Calcio/sangre , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fósforo/sangre , Insuficiencia Renal/cirugía , Insuficiencia Renal/terapia , Factores de TiempoAsunto(s)
Osteopoiquilosis/diagnóstico , Insuficiencia Renal/diagnóstico , Enfermedades Cutáneas Genéticas/diagnóstico , Adulto , Femenino , Humanos , Trasplante de Riñón , Osteopoiquilosis/complicaciones , Osteopoiquilosis/diagnóstico por imagen , Osteopoiquilosis/patología , Osteopoiquilosis/cirugía , Osteosclerosis/diagnóstico por imagen , Osteosclerosis/patología , Radiografía , Insuficiencia Renal/etiología , Insuficiencia Renal/cirugía , Enfermedades Cutáneas Genéticas/complicaciones , Enfermedades Cutáneas Genéticas/cirugíaRESUMEN
The aim of the study was to determine the role of transurethralresection of prostate (TURP) in normalising renal function in men presenting with obstructive renal failure secondary to benign prostatic hyperplasia. We reviewed the cases of 14 men who presented in the last 5 years with renal impairment associated with symptoms of bladder outflow obstruction and radiological evidence of obstructive uropathy. The mean serum creatinine at presentation was 632 ng/mL (range 1299 - 225). The mean age at presentation was 68.2 years (range 50 - 83 years). Duration of symptoms prior to presentation ranged between 1 - 118 months (mean 21.5 months). Following catheter insertion, all patients underwent TURP. Six of the 14 patients required dialysis prior to surgery. Histology of the resected prostate confirmed benign prostatic hypertrophy and/or hyperplasia in all cases. Patients with carcinoma of the prostate were excluded from the study. Following TURP, 2 of the 14 men (14%) failed to void spontaneously following removal of catheter - one patient performs clean self intermittent catheterization (CSIC), the other man has an in-dwelling catheter in situ. One patient died 7 months following TURP due to a myocardial infarction. However, 8 patients, (57%) remained dialysis dependent following TURP. Two of these patients have since undergone successful renal transplantation. Of the remaining 6 patients, only 3 have normal renal function with the other 3 experiencing moderately elevated serum creatinine (range 236 - 344 ng/mL). In patients presenting with renal failure due to bladder outflow obstruction, TURP restores normal voiding pattern in many cases. However renal failure due to bladder outflow obstruction tends to be more refractory and only 3 of 14 patients experienced return to normal renal function post treatment.
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Hiperplasia Prostática/complicaciones , Hiperplasia Prostática/cirugía , Insuficiencia Renal/etiología , Resección Transuretral de la Próstata , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Humanos , Incidencia , Irlanda/epidemiología , Masculino , Persona de Mediana Edad , Hiperplasia Prostática/epidemiología , Insuficiencia Renal/epidemiología , Insuficiencia Renal/cirugía , Estudios RetrospectivosRESUMEN
El objetivo del estudio fue analizar la evolución de los pacientes trasplantados con injertos procedentes de donantes en asistolia. La inmunosupresión fue cuádruple secuencial con Timoglobulina, micofenolato, esteroides y tacrolimus. Todos los pacientes presentaron una función retrasada del injerto y solamente un paciente tuvo un fallo primario. Durante el seguimiento, no se objetivó ningún rechazo agudo en el período precoz post-trasplante, la función renal mejoró progresivamente durante el primer año y no se observaron complicaciones importantes (AU)
The aim of this study was to analyze the evolution of renal transplant recipients from non-heart-beating donors. The immunosuppressive treatment was a quadruple sequential therapy with Thymoglobulin, mycophenolate, steroids and tacrolimus. All the patients bad delayed graft function and only one patient bad a nonviable kidney. The outcome didn´t show any early acute rejection or serious complications. We observed a good renal function (AU)
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Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Trasplante de Riñón/métodos , Insuficiencia Renal/cirugía , Evolución Clínica , Paro Cardíaco , Creatinina/sangre , Terapia de InmunosupresiónRESUMEN
In the present study we aimed to demonstrate the efficacy of short-term pretreatment with finasteride in patients undergoing transurethral resection of the prostate (TUR-P). For this purpose 40 patients with BPH, who were candidates for TUR-P, were randomized into two groups. The first group (n=20) received 5 mg finasteride/day for 4 weeks prior to surgery and the second group (n=20) remained as the control. Patients who underwent prior prostate or urethral surgery and had a diagnosis of prostate cancer or chronic renal failure, patients who received finasteride, aspirin, coumadin or similar anticoagulant drugs prior to surgery and patients who had capsule perforations or open sinuses during the surgery were excluded from the study. All patients had a normal digital rectal examination and PSA values less than 4 ng/ml. As we look at the results there was no statistically significant difference between the finasteride group and control group regarding age, IPSS, PSA, prostate volumes, preoperative serum hemoglobin, hematocrit values and mean operating times and used irrigating fluids. The total amount of bleeding and bleeding per gram resected tissue were significantly lower in the finasteride group regardless of prostate volume. Furthermore the decrease in the hemoglobin and hematocrit values was higher in the control group. As a conclusion four weeks of finasteride pretreatment provided a significant decrease in peroperative bleeding regardless of prostate volume without any major side effects.
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Finasterida/uso terapéutico , Neoplasias de la Próstata/tratamiento farmacológico , Neoplasias de la Próstata/cirugía , Resección Transuretral de la Próstata/métodos , Factores de Edad , Anciano , Anticoagulantes/uso terapéutico , Aspirina/uso terapéutico , Hemoglobinas/química , Humanos , Masculino , Persona de Mediana Edad , Próstata/patología , Antígeno Prostático Específico/metabolismo , Hiperplasia Prostática/patología , Insuficiencia Renal/tratamiento farmacológico , Insuficiencia Renal/cirugía , Riesgo , Factores de Tiempo , Uretra/patología , Uretra/cirugía , Warfarina/uso terapéuticoRESUMEN
The mild fasting hyperhomocysteinemia commonly observed in chronic (ie, >/=6 months posttransplantation) renal transplant recipients (RTRs) can be effectively treated with combined B-vitamin supplementation featuring supraphysiological doses of folic acid. There are no controlled data evaluating the comparative efficacy of supraphysiological versus standard multivitamin dose folic acid supplementation in reducing fasting total homocysteine (tHcy) levels among RTRs. We block-randomized 60 chronic, stable RTRs on the basis of their screening fasting tHcy level to 3 groups of 20 subjects treated for 12 weeks with folic acid at either 2.4 (group 1), 0.4 (ie, standard multivitamin dose) (group 2), or 0.0 (group 3) mg/d. All 60 study participants also received 50 mg/d vitamin B(6) and 0.4 mg/d vitamin B(12). The mean percent reductions (+/-SEM) in fasting tHcy were as follows: group 1, 32.3+/-2.4%; group 2, 23.4+/-2.3%; and group 3, 19.1+/-2.3%. ANCOVA accounting for the pretreatment matching and adjusted for pretreatment levels of fasting tHcy, folate, and albumin; change in creatinine during the study; and cyclosporine A use revealed significant overall group differences (P=0.005) and significant differences between groups 1 and 2 (P=0. 038) and groups 1 and 3 (P=0.001), but not between groups 2 and 3 (P=0.153). Moreover, a chi(2) analysis of participants with pretreatment tHcy levels >/=15 micromol/L (n=29) indicated that a significantly greater proportion of those in group 1 achieved posttreatment levels <12 micromol/L: group 1, 5 of 10 (50%); group 2, 1 of 11 (9%); and group 3, 0 of 8 (0%) (P=0.016; test of trend P=0. 007). We conclude that a supraphysiological dose of folic acid is superior to standard multivitamin dosing for the reduction of fasting tHcy levels in chronic RTRs.
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Ácido Fólico/administración & dosificación , Hematínicos/administración & dosificación , Homocisteína/sangre , Hiperhomocisteinemia/prevención & control , Trasplante de Riñón , Adulto , Ayuno , Femenino , Humanos , Hiperhomocisteinemia/tratamiento farmacológico , Modelos Logísticos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/tratamiento farmacológico , Complicaciones Posoperatorias/prevención & control , Diálisis Renal , Insuficiencia Renal/sangre , Insuficiencia Renal/cirugía , Insuficiencia Renal/terapiaRESUMEN
The incidence of chronic renal failure in China is approximately 120,000 cases per year; the vast majority of these new cases will die within a very short time because of the shortage of funds, dialysis machines, and organs for transplantation. This paper focuses on the reasons behind the organ shortage and the strategies proposed by the Chinese medical profession to increase the supply of transplantable kidneys. The data were gathered on multiple trips to China, Hong Kong and Taiwan between August 1993 and January 1995. During these trips the author spoke formally with nephrologists, urologists, dialysis and transplant nurses, and other individuals active in the field of organ procurement, and informally with others familiar with general hospital practice. The author also draws heavily on articles published in leading Chinese journals. The kidney shortage in China is produced by the same sorts of problems as exist in other countries, but the shortage is aggravated by certain beliefs and practices specific to Chinese populations. Live donation is hampered by traditional beliefs about the function of the kidney, while cadaver donation is hampered by reluctance to cut a body and a host of beliefs about ghosts, labeled "feudal superstitions" by the authorities. Cadaver donation is further restrained by the lack of legal recognition of "brain death". In response to the organ shortage, the Chinese medical community has expanded the range of eligible sources to include those condemned to death as criminals, a practice itself usually condemned by the wider international community. At the same time it has advocated: (1) enhancing corpse donation through propaganda work, administrative work, legal work, and incentives; (2) encouraging live donation; (3) familiarizing the public with the benefits of organ transplantation, and (4) pursuing the development of artificial organs.
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Trasplante de Riñón/psicología , Aceptación de la Atención de Salud/etnología , Insuficiencia Renal/cirugía , Donantes de Tejidos/provisión & distribución , Obtención de Tejidos y Órganos/organización & administración , Actitud Frente a la Muerte/etnología , China/epidemiología , Historia del Siglo XX , Derechos Humanos/historia , Humanos , Trasplante de Riñón/historia , Trasplante de Riñón/estadística & datos numéricos , Qi , Religión y Medicina , Insuficiencia Renal/epidemiología , Insuficiencia Renal/etnología , Donantes de Tejidos/psicología , Obtención de Tejidos y Órganos/historia , Privación de TratamientoRESUMEN
Very few patients with familial hypomagnesemia, hypercalciuria and nephrocalcinosis have been described. Information about clinical course, familial studies or evolution after renal transplantation is very scant. We have studied eight patients with this syndrome who belong to five different families. The mean age at diagnosis was 15 +/- 7 years (5 to 25 years). The primary clinical data were polyuria-polydipsia (8 cases), ocular abnormalities (5), recurrent urinary tract infections (5) and recurrent renal colics with stone passage (2). Bilateral nephrocalcinosis was observed in all cases. Every patient showed hypomagnesemia (1.1 +/- 0.2 mg/dl) with inappropriately high urinary magnesium (Mg) excretions (70 +/- 17 mg/day), Mg clearances (4.4 +/- 1.2 ml/m) and Mg fractional excretions (16.2 +/- 7.1%). Hypercalciuria was present in every case except in those with advanced renal insufficiency. Serum parathormone levels were abnormally high. Serum calcium (Ca), phosphorus and potassium, and urinary excretions of uric acid and oxalate were normal. Neither chronic oral Mg administration nor thiazide diuretics normalized serum Mg levels or urinary Ca excretions, respectively. Follow-up was 6 +/- 4.5 years. Renal function worsened in every case with six patients starting on chronic dialysis after 4.3 +/- 3.8 years. The progression rate of renal insufficiency correlated with the severity of nephrocalcinosis. Five patients have received a kidney graft, and their serum Mg and urinary Ca have always been within normal values after transplantation. Twenty-six members of four of the affected families were studied: none of them showed hypomagnesemia, renal insufficiency or nephrocalcinosis. However, eleven cases (42%) had hypercalciuria and four of them presented with recurrent renal stones. Two family members had medullary sponge kidneys. In conclusion, progression to renal insufficiency is common in this syndrome; oral Mg and thiazide diuretics are ineffective to correct abnormalities. After kidney graft, tubular handling of Mg and Ca was normal. A striking incidence (42%) of hypercalciuria was found in the familial study.