ABSTRACT
La nefronoptisis es una enfermedad renal quística, de herencia autosómica recesiva, causada por mutaciones en genes que codifican proteínas involucradas en la función de cilios primarios, lo que resulta en enfermedad renal y manifestaciones extrarrenales como degeneración retiniana y fibrosis hepática. Según la edad de desarrollo de enfermedad renal crónica terminal, se describen tres formas clínicas de presentación: infantil, juvenil y adolescente. El diagnóstico se realiza por una prueba genética positiva o una biopsia de riñón que demuestre cambios tubulointersticiales crónicos con un engrosamiento de las membranas basales tubulares. No existe hasta la actualidad una terapia curativa, por lo que el trasplante renal oportuno es determinante en cuanto al pronóstico. Se presenta un paciente de 13 meses de edad con poliuria de 3 meses de evolución, insuficiencia renal, anemia y elevación de transaminasas. Con hallazgos histológicos compatibles en la biopsia renal, se arribó al diagnóstico de nefronoptisis infantil, con afectación hepática
Nephronophthisis is an autosomal recessive cystic kidney disease caused by mutations in genes that encode proteins involved in the primary cilia function, resulting in kidney disease and extrarenal manifestations such as retinal degeneration and liver fibrosis. According to the age of development of end-stage chronic kidney disease, three clinical forms of presentation are described: infantile, juvenile and adolescent. Diagnosis is made by a positive genetic test, or a kidney biopsy demonstrating chronic tubulointerstitial changes with thickening of the tubular basement membranes. At the moment there is no healing therapy, so early kidney transplant is a fundamental tool to improve prognosis.We present a 13-month old male patient with polyuria, kidney failure, anemia and elevated aminotransferases over three months. With compatible histological kidney biopsy, the diagnosis of infantile nephronophthisis with liver involvement was reached.
Subject(s)
Humans , Male , Infant , Kidney Diseases, Cystic/diagnosis , Kidney Diseases, Cystic/genetics , Kidney Diseases, Cystic/pathology , Kidney Diseases , Kidney Failure, Chronic/genetics , Proteins , Genetic TestingABSTRACT
Nephronophthisis is an autosomal recessive cystic kidney disease caused by mutations in genes that encode proteins involved in the primary cilia function, resulting in kidney disease and extrarenal manifestations such as retinal degeneration and liver fibrosis. According to the age of development of end-stage chronic kidney disease, three clinical forms of presentation are described: infantile, juvenile and adolescent. Diagnosis is made by a positive genetic test, or a kidney biopsy demonstrating chronic tubulointerstitial changes with thickening of the tubular basement membranes. At the moment there is no healing therapy, so early kidney transplant is a fundamental tool to improve prognosis. Nefronoptisis: reporte de un caso pediátrico Nephronophthisis: a pediatric case report We present a 13-month old male patient with polyuria, kidney failure, anemia and elevated aminotransferases over three months. With compatible histological kidney biopsy, the diagnosis of infantile nephronophthisis with liver involvement was reached.
La nefronoptisis es una enfermedad renal quística, de herencia autosómica recesiva, causada por mutaciones en genes que codifican proteínas involucradas en la función de cilios primarios, lo que resulta en enfermedad renal y manifestaciones extrarrenales como degeneración retiniana y fibrosis hepática. Según la edad de desarrollo de enfermedad renal crónica terminal, se describen tres formas clínicas de presentación: infantil, juvenil y adolescente. El diagnóstico se realiza por una prueba genética positiva o una biopsia de riñón que demuestre cambios tubulointersticiales crónicos con un engrosamiento de las membranas basales tubulares. No existe hasta la actualidad una terapia curativa, por lo que el trasplante renal oportuno es determinante en cuanto al pronóstico. Se presenta un paciente de 13 meses de edad con poliuria de 3 meses de evolución, insuficiencia renal, anemia y elevación de transaminasas. Con hallazgos histológicos compatibles en la biopsia renal, se arribó al diagnóstico de nefronoptisis infantil, con afectación hepática.
Subject(s)
Kidney Diseases, Cystic , Kidney Diseases , Kidney Failure, Chronic , Adolescent , Child , Female , Genetic Testing , Humans , Infant , Kidney Diseases, Cystic/diagnosis , Kidney Diseases, Cystic/genetics , Kidney Diseases, Cystic/pathology , Kidney Failure, Chronic/genetics , Male , ProteinsABSTRACT
La acidosis tubular renal distal es el tipo más frecuente de acidosis tubular renal en pediatría y puede ser hereditario. Se debe a una incapacidad del riñón para excretar iones de hidrógeno, en ausencia de deterioro de la función renal, y ocurre con acidosis metabólica hiperclorémica con brecha aniónica (anion gap) normal. Los síntomas pueden ser retraso del crecimiento, vómitos, estreñimiento, falta de apetito, polidipsia y poliuria, nefrocalcinosis, debilidad y hasta parálisis muscular por la hipokalemia. A menudo, se acompaña de deterioro auditivo neurosensorial. Corregir la acidosis puede tener una variedad de beneficios, como restaurar el crecimiento normal, disminuir la hipokalemia, estabilizar o evitar la nefrocalcinosis y disminuir el riesgo de osteopenia. El diagnóstico oportuno y el tratamiento adecuado de los pacientes hacen que permanezcan asintomáticos y sean capaces de llevar una buena calidad de vida. Se presentan los casos de dos hermanos afectados por acidosis tubular renal distal, su proceso diagnóstico, tratamiento y seguimiento actual.
Distal renal tubular acidosis is the most common type of renal tubular acidosis in pediatrics and can be hereditary. It is due to an inability in the kidney to excrete hydrogen ion (H+), in the absence of deterioration of renal function, and it is accompanied by hyperchloremic metabolic acidosis with normal anion gap. The symptoms can be growth retardation, vomiting, constipation, lack of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and even muscle paralysis due to hypokalemia. It is often accompanied by sensorineural hearing impairment. Correcting acidosis can have a variety of benefits such as restoring normal growth, decreasing hypokalemia, stabilizing or preventing nephrocalcinosis and decreasing the risk of osteopenia. Timely diagnosis and adequate treatment of patients make them remain asymptomatic and able to lead a good quality of life. We present the cases of two siblings affected by distal renal tubular acidosis, its diagnostic process, treatment and current follow-up.
Subject(s)
Humans , Infant, Newborn , Child, Preschool , Acidosis, Renal Tubular , Diagnosis , Failure to Thrive , NephrocalcinosisABSTRACT
Distal renal tubular acidosis is the most common type of renal tubular acidosis in pediatrics and can be hereditary. It is due to an inability in the kidney to excrete hydrogen ion (H+), in the absence of deterioration of renal function, and it is accompanied by hyperchloremic metabolic acidosis with normal anion gap. The symptoms can be growth retardation, vomiting, constipation, lack of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and even muscle paralysis due to hypokalemia. It is often accompanied by sensorineural hearing impairment. Correcting acidosis can have a variety of benefits such as restoring normal growth, decreasing hypokalemia, stabilizing or preventing nephrocalcinosis and decreasing the risk of osteopenia. Timely diagnosis and adequate treatment of patients make them remain asymptomatic and able to lead a good quality of life. We present the cases of two siblings affected by distal renal tubular acidosis, its diagnostic process, treatment and current follow-up.
La acidosis tubular renal distal es el tipo más frecuente de acidosis tubular renal en pediatría y puede ser hereditario. Se debe a una incapacidad del riñón para excretar iones de hidrógeno, en ausencia de deterioro de la función renal, y ocurre con acidosis metabólica hiperclorémica con brecha aniónica (anion gap) normal. Los síntomas pueden ser retraso del crecimiento, vómitos, estreñimiento, falta de apetito, polidipsia y poliuria, nefrocalcinosis, debilidad y hasta parálisis muscular por la hipokalemia. A menudo, se acompaña de deterioro auditivo neurosensorial. Corregir la acidosis puede tener una variedad de beneficios, como restaurar el crecimiento normal, disminuir la hipokalemia, estabilizar o evitar la nefrocalcinosis y disminuir el riesgo de osteopenia. El diagnóstico oportuno y el tratamiento adecuado de los pacientes hacen que permanezcan asintomáticos y sean capaces de llevar una buena calidad de vida. Se presentan los casos de dos hermanos afectados por acidosis tubular renal distal, su proceso diagnóstico, tratamiento y seguimiento actual.
Subject(s)
Acidosis, Renal Tubular/diagnosis , Siblings , Acidosis, Renal Tubular/physiopathology , Acidosis, Renal Tubular/therapy , Child, Preschool , Female , Humans , Infant, Newborn , MaleABSTRACT
MMF has been shown to decrease the incidence of acute rejection in children and adults at 1 and 3 yr. Other beneficial effects of MMF have been more difficult to demonstrate. Our open-labeled study presents a 5-yr data for patients and graft survival, allograft function, and growth in MMF-treated patients. The trial included 29 patients who were treated with MMF in combination with cyclosporine and methylprednisone. Patients were compared with a preceding group of 29 patients treated with AZA instead of MMF. Patient and graft survival rate 5 yr after transplantation were 97 and 90% in the MMF group vs. 93 and 83% in the AZA group (p: NS). Acute rejection was 20.6% in the MMF group vs. 58.6% in the AZA group (p < 0.01). Chronic rejection was 10.3% in the MMF group and 25% in the AZA group (p: NS). The changes in the creatinine clearance from baseline to 5 yr (Delta) were different between groups (-6.0 +/- 5.1 mL/min/1.73 m(2) in the MMF group vs. -22.2 +/- 7.6 mL/min/1.73 m(2) in the AZA group, p < 0.05). Also, the slope of 1/Scr showed a significant lower incidence of worsening renal function after the second year of renal transplantation (p < 0.0001) in the MMF group compared with the AZA group. Delta Height SDS in prepubertal patients was 0.3 +/- 0.4 SDS in the MMF group vs. -0.8 +/- 0.2 SDS in the AZA group (p < 0.05). This study shows that long-term MMF therapy has resulted in a decrease in acute rejection and was associated with a protection against renal function deterioration. The use of MMF enables a reduction in the dose of steroids and leads to a linear growth improvement of children after renal transplantation.
Subject(s)
Graft Rejection/prevention & control , Immunosuppressive Agents/therapeutic use , Kidney Transplantation , Mycophenolic Acid/analogs & derivatives , Mycophenolic Acid/therapeutic use , Adolescent , Creatinine/blood , Cyclosporine/administration & dosage , Drug Therapy, Combination , Female , Humans , Immunosuppressive Agents/adverse effects , Kidney Failure, Chronic/surgery , Kidney Transplantation/immunology , Male , Methylprednisolone/administration & dosage , Mycophenolic Acid/adverse effects , Prospective Studies , Transplantation, HomologousABSTRACT
We evaluated the relationship between the acute phase and the development of end-stage renal disease (ESRD) and the outcome of renal transplant in patients with Shiga toxin-associated hemolytic uremic syndrome (Stx-HUS). A 20-year retrospective study was performed of 66 renal transplants in 62 patients with Stx-HUS compared with 189 renal allografts in 178 children with other diseases. Of 62 patients, 61 had >7 days of oliguria during the acute phase. Stx-HUS patient survival was not different from controls (92% vs. 83% 15 years after renal transplantation). In the cyclosporine (CsA) era, survival of grafts from living related (LRD) and cadaver (CD) donors in Stx-HUS and control patients was 83% versus 70% ( P<0.03) and 77% versus 49% ( P<0.05) at 10 years. Graft survival in Stx-HUS and dysplasia/obstructive uropathy patients was 79% versus 76% ( P=NS), but it was different from that of other diseases (79% vs. 58%, P<0.001). There was no clinical or histopathological evidence of Stx-HUS recurrence. In conclusion, in Stx-HUS patients the duration of the acute oliguric period was a good predictor for the progression to ESRD. Use of CsA and the absence of recurrence of the disease influenced the excellent prognosis in Stx-HUS patients after renal transplantation. The development of ESRD in Stx-HUS could be mediated by non-immunological factors.
Subject(s)
Hemolytic-Uremic Syndrome/surgery , Kidney Transplantation/physiology , Shiga Toxin , Adolescent , Adult , Child , Child, Preschool , Disease Progression , Female , Follow-Up Studies , Glomerulonephritis/etiology , Glomerulonephritis/pathology , Glomerulonephritis/surgery , Graft Rejection/epidemiology , Graft Survival , Humans , Kidney Failure, Chronic/etiology , Kidney Failure, Chronic/pathology , Kidney Failure, Chronic/surgery , Living Donors , Male , Recurrence , Treatment OutcomeABSTRACT
Se analiza la casuítica de sífilis congénita precoz que se internara en nuestro servicio en el último decenio, constituida por 30 niños cuya edad osciló entre 19 días y 11 meses detallándose las principales características de su sintomatología, análisis complementarios y evolución intrahospitalaria. Se destaca el grave riesgo que representa esta etiología para el niño del primer trimeste y para los distróficos de segundo grado. Se tipifican las características fundamentales de la sífilis congénita precoz destacándose el grave daño orgánico que sufre el así afectado al que se agrede en sus primeros estadios de maduración anátomofuncional. Se destacan los resultados del tratamiento y se esbozan las directivas terapéuticas que se estiman más efectivas en cada tipo de enfermo. Se enfatiza la necesidad de hacer tratamiento antiluético en la embarazada o en el período del recién nacido para lograr los mejores resultados terapéuticos posibles en el lactante menor.
