RESUMO
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.
Assuntos
Acidose Tubular Renal/diagnóstico , Irmãos , Acidose Tubular Renal/fisiopatologia , Acidose Tubular Renal/terapia , Pré-Escolar , Feminino , Humanos , Recém-Nascido , MasculinoRESUMO
Hyperchloremic metabolic acidosis of renal origin results from a defect in renal tubular acidification mechanism, and this tubular dysfunction can consist of an altered tubular proton secretion or bicarbonate reabsorption capability. Studies have documented that all forms of renal tubular acidosis (RTA), type I to IV, are documented in kidney transplant patients. Among RTA pathophysiologic mechanisms have been described the renal mass reduction, hyperkalemia, hyperparathyroidism, graft rejection, immunologic diseases, and some drugs such as renin-angiotensin-aldosterone blockers, and calcineurin inhibitors. RTA can lead to serious complications as is the case of muscle protein catabolism, muscle protein synthesis inhibition, renal osteodystrophy, renal damage progression, and anemia promotion. RTA should be treated by suppressing its etiologic factor (if it is possible), avoiding hyperkalemia, and/or supplying bicarbonate or a precursor (citrate). In conclusion: Hyperchloremic metabolic acidosis of renal origin is a relatively frequent complication in kidney transplantation patients, which can be harmful, and should be adequately treated in order to avoid its renal and systemic adverse effects.
Assuntos
Acidose Tubular Renal/etiologia , Transplante de Rim/efeitos adversos , Rim/fisiopatologia , Acidose Tubular Renal/terapia , HumanosAssuntos
Lactente , Criança , Acidose Tubular Renal/terapia , Desequilíbrio Ácido-Base , Genética , Biologia MolecularAssuntos
Lactente , Criança , Biologia Molecular , Genética , Acidose Tubular Renal/terapia , Desequilíbrio Ácido-BaseRESUMO
Primary Sjögren's Syndrome complicated with a renal tubular acidosis type 1 and hypocalcemic paralysis, as the principal clinical manifestation, is uncommon. Although the initial manifestations of the nephropathy are not well understood, it is believed that the invasion of mononuclear cells and the high level of circulating antibodies, play an important role in the pathogenesis of the disease. We present a patient with hypocalcemic paralysis as an initial manifestation of a latent Sjögren's disease. The glandular biopsy was normal, suggesting a mayor participation of an immunological humoral factor in the renal lesion.
Assuntos
Acidose Tubular Renal/complicações , Síndrome de Sjogren/complicações , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/terapia , Adolescente , Feminino , Humanos , Rim/diagnóstico por imagem , Síndrome de Sjogren/diagnóstico , Síndrome de Sjogren/terapia , UltrassonografiaRESUMO
Primary Sjõgren's Syndrome complicated with a renal tubular acidosis type 1 and hypocalcemic paralysis, as the principal clinical manifestation, is uncommon. Although the initial manifestations of the nephropathy are not well understood, it is believed that the invasion of mononuclear cells and the high level of circulating antibodies, play an important role in the pathogenesis of the disease. We present a patient with hypocalcemic paralysis as an initial manifestation of a latent Sjõgren's disease. The glandular biopsy was normal, suggesting a mayor participation of an immunological humoral factor in the renal lesion.
Assuntos
Humanos , Feminino , Adolescente , Acidose Tubular Renal/complicações , Síndrome de Sjogren/complicações , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/terapia , Rim , Síndrome de Sjogren/diagnóstico , Síndrome de Sjogren/terapiaRESUMO
Se estudiaron 174 pacientes con diagnóstico de Acidosis Tubular Renal, quienes asistieron regularmente a la Consulta del Servicio de Nefrología del Hospital de Niños "J.M. de los Ríos", durante el año 1985. Las manifestaciones clínicas más frecuentes fueron infección urinaria, hematuria, retraso pondo estatural, dolor abdominal y trastornos hidroelectrolíticos..
Assuntos
Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Humanos , Masculino , Feminino , Acidose Tubular Renal/terapia , Acidose Tubular Renal/diagnóstico , Hematúria/diagnóstico , Infecções Urinárias/diagnósticoRESUMO
Three neonates, two with unilateral renal vein thrombosis and one with unilateral dysplastic kidney, developed type 4 renal tubular acidosis, manifested by nonazotemic hyperkalemic metabolic acidosis with alkaline urine pH and reduced potassium excretion. Normal plasma concentrations of sodium, aldosterone, and renin activity, together with normal renal fractional excretion of sodium, supported the diagnosis of renal tubular acidosis type 4, subtype 5. Arginine HCl loading studies showed that despite their ability to bring the urine pH to less than 5.8, net acid excretion was inadequate relative to the corresponding plasma bicarbonate concentration. Treatment with oral bicarbonate resulted in sustained normalization of blood acid-base status and accelerated linear growth in the first two infants, in whom spontaneous recovery occurred by ages 8 and 15 months, respectively. At that time, the affected kidneys were extremely small with distorted collecting systems; the contralateral kidneys showed compensatory hypertrophy. In the third infant, persistent acidosis and growth failure resulted from medical noncompliance; the removal of the dysplastic kidney at 7 months of age was followed by the return to normal blood acid-base status and normalized tubular hydrogen and potassium excretion. We conclude that neonatal unilateral kidney disease can result in renal tubular subtype 5. Spontaneous recovery can be expected, presumably because of " autonephrectomy " of the affected kidney plus the compensatory hypertrophy of the contralateral kidney.
Assuntos
Acidose Tubular Renal/etiologia , Rim/anormalidades , Veias Renais , Trombose/complicações , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/terapia , Aldosterona/sangue , Bicarbonatos/administração & dosagem , Feminino , Humanos , Recém-Nascido , Masculino , Nefrectomia , Sódio/sangueRESUMO
In the past decade major advances in our understanding of renal tubular hydrogen ion secretion and bicarbonate reabsorption have provided new insight into the pathophysiology of renal tubular acidosis. Thus "fragment to fragment clings" and the number of disorders categorized within the syndrome grows, until we have come to know and name four types, with many subtypes. We hope this new perspective provides a basis for the physician to recognize renal tubular acidosis in its several forms so that an informed decision may be arrived at in choosing the best therapy. The physician may also be prepared to reasonably project the prognosis for each patient. We also hope that our detailed examination of renal acidification will provide a reference for delineation of new clinical expressions of acid-base disorders and kidney malfunction certain to be described in the years ahead.