Acidosis tubular renal distal hereditaria, diagnóstico en hermanos: A propósito de 2 casos pediátricos / Distal hereditary renal tubular acidosis, diagnosis in siblings: About 2 pediatric cases
Arch. argent. pediatr
; 117(3): 263-269, jun. 2019. ilus, graf, tab
Article
in Spanish
| LILACS, BINACIS
| ID: biblio-1001199
Responsible library:
AR94.1
RESUMEN
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.
ABSTRACT
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.
Full text:
Available
Collection:
International databases
Health context:
SDG3 - Health and Well-Being
/
SDG3 - Target 3.4 Reduce premature mortality due to noncommunicable diseases
/
SDG3 - Target 3.2 Reduce avoidable death in newborns and children under 5
Health problem:
Target 3.2: Reduce avoidable death in newborns and children under 5
/
Endocrine System Diseases
/
Kidney, Renal Pelvis and Ureter Cancer
/
Environmental Health
/
Nutrition
Database:
BINACIS
/
LILACS
Main subject:
Acidosis, Renal Tubular
/
Diagnosis
/
Failure to Thrive
/
Nephrocalcinosis
Type of study:
Diagnostic study
Aspects:
Patient-preference
Limits:
Child, preschool
/
Humans
/
Infant, Newborn
Language:
Spanish
Journal:
Arch. argent. pediatr
Journal subject:
Pediatrics
Year:
2019
Document type:
Article
Affiliation country:
Argentina
Institution/Affiliation country:
Hospital Alemán de Buenos Aires/AR
/
Hospital de Niños Dr. Ricardo Gutiérrez/AR