ABSTRACT
RESUMEN Objetivo: Analizar la asociación entre el polimorfismo rs2291166 del gen TJP1 con los niveles de glucosaminoglucanos (GAGS) excretados en orina como marcador de las primeras etapas de la nefropatía. Material y métodos: Se analizaron 600 muestras de orina de sujetos recién diagnosticados con diabetes tipo 2, de las cuales se incluyeron 203. La detección de GAGS en orina directa se realizó mediante prueba de turbidez de albúmina ácida y precipitación con cetilpiridinio (CPC). Resultados: El 26,64% de los pacientes diabéticos se encuentran en estadios tempranos de nefropatía, lo que corresponde a pacientes con prueba GAG positiva, siendo los que tienen mayor excreción de GAGS, heterocigotos para el polimorfismo. Conclusión:Sugerimos que el polimorfismo de TJP1 rs2291166 influye en la mucopolisacariduria en pacientes diabéticos tipo 2 de la población mexicana; que podría usarse como un marcador genético/ bioquímico válido para las primeras etapas de la nefropatía diabética.
ABSTRACT Objective: To analyze the association between the polymorphism rs2291166 of TJP1 gene, with the urine-excreted levels of GAGS as a marker of early stages of nephropathy. Methods: A 600 urine samples from newly diagnosed subjects with type 2 diabetes were analyzed, of which 203 were included. The GAGS detection in direct urine (corresponding to the first urine of the morning), was performed by albumin turbidity test and precipitation with cetylpyridinium (CPC). Results: The present study shows that 26.64% of diabetic patients are in early stages of nephropathy, corresponding to patients with a positive GAG test, being those with the highest GAGS excretion, heterozygous for the polymorphism. Conclusion: We suggest that the TJP1 polymorphism rs2291166 influences mucopolysacchariduria in type 2 diabetic patients of the Mexican population, which could be used as a valid genetic/biochemical marker for the early stages of diabetic nephropathy.
ABSTRACT
La osteólisis idiopática multicéntrica (OIM) se caracteriza por el compromiso de carpos y de tarsos, con inflamación y dolor; se inicia en la infancia y se autolimita en la 2a o 3a década de la vida. Según Hardegger, se describen tipos hereditarios dominantes (tipo I) o recesivos asociados a osteoporosis (tipo II), OIM esporádicas con compromiso renal (tipo III) u osteólisis masiva monocéntrica (tipo IV). El tipo V se caracteriza por clínica similar al tipo II asociada a lesiones oculares o dermatológicas y talla baja. En esta oportunidad se presenta el caso clínico de una OIM tipo III. Consulta un varón de 50 años con antecedentes de dolor, tumefacción y deformidad en ambos carpos y tarsos y compromiso funcional de inicio en la infancia. A los 34 años presenta proteinuria, edemas e hipertensión arterial, desarrolla insuficiencia renal crónica (ICR). Se realizó trasplante renal. Sin antecedentes familiares de OIM. Se comprueba: disminución en la función de ambas manos, limitación en la extensión de muñeca y deformidad en los dedos, y distrofia muscular de antebrazos y piernas. Camina con dificultad. En las radiografías se observa ausencia de huesos del carpo y tarso, osteólisis en algunas falanges. Se indica tratamiento con bifosfonatos, vitamina D y rehabilitación. El paciente presenta OIM asociada a IRC e hipertensión arterial. Por carecer de antecedentes familiares se la considera OIM del tipo III. La OIM es una enfermedad infrecuente; el diagnóstico oportuno evita tratamientos innecesarios y permite tratar la enfermedad renal y la hipertensión en estadios más tempranos.
Idiopathic Multicentric Osteolysis (IMO) is a rare disease characterizedby osteolysis of carpus and tarsus, with inflammation and painwith onset in childhood and arrest y the second or third decade. It isclassified by Hardegger in 5 Types, 1: Hereditary IMO with dominanttransmission. 2: Hereditary IMO with recessive transmission. 3: NonHereditary IMO, associated with nephropathy and hypertension. 4:Gorham´s Syndrome: massive osteolysis and replacement of bone bylymphatic or blood vessel tissue. 5: Winchester Syndrome: IMO withshort stature, contractures, thick skin, corneal opacities and osteoporosis.A 50 year old male with a history of pain, swelling and deformityin both wrists and tarsi evolving from age 4, attends the consultation.He has functional involvement of hands and feet. At age 34, he hadreferred the presence of proteinuria, edema and hypertension, anddeveloped chronic renal falilure (CRF). Dialysis and renal transplantationwere indicated. No family history of IMO. Findings: Reducedfunction of boths hands, limited range of wrist and finger deformity,muscular forearms and legs dystrophy. He walked with difficulty. It isobserved on radiographs, absence of carpal and tarsal bones, phalangescommitment. Physiotherapy rehabilitation and treatment withbisphosphonates and vitamin D was indicated. A patient with IMO associatedwith CRF and hypertension was presented. He has absenceof family history. It is considered Type III IMO. The IMO is a rare diseases,early diagnosis prevents unnecessary treatment and can treatkidney disease and hypertension at an earlier stage.
Subject(s)
Humans , Hajdu-Cheney Syndrome , Kidney Diseases , Osteolysis, EssentialABSTRACT
The beneficial effect angiotensin converting enzyme inhibitors (ACEI) and angiotensin II receptor antagonists (ARA) for diabetic nephropathy can be hampered by the phenomenon of aldosterone escape. Aldosterone antagonists such as espironolactone or epleronone could potentiate the effects of ACEI and ARA and avoid the later problem. We performed a systematic search of the literature on the effects of aldosterone antagonists on diabetic nephropathy. We searched for clinical trials and follow up studies measuring the effects of aldosterone antagonists on urinary albumin excretion among patients with diabetic nephropathy. We retrieved 1345 papers on the subject and 10 were selected for analysis. Among these, spironolactone was more effective than comparing drugs to achieve a reduction in urinary albumin excretion of approximately 30 to 40 percent. On the other hand epleronone was not superior to comparing drugs. All studies reported a modest reduction in glomerular filtration rate and an increase in serum potassium levels. In conclusion, spironolactone in doses of 25 to 100 mg/day reduces urinary albumin excretion but reduces also glomerular filtration rate and increases serum potassium levels.