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[Distal hereditary renal tubular acidosis, diagnosis in siblings: About 2 pediatric cases].

作者信息

Silva Ana M, Méndez José, Piantanida Juan J, Hernández Gabriel, Bois Federico

机构信息

Departamento de Pediatría, Hospital Alemán de Buenos Aires.

Departamento de Nefrología Pediátrica, Hospital Alemán de Buenos Aires.

出版信息

Arch Argent Pediatr. 2019 Jun 1;117(3):e263-e269. doi: 10.5546/aap.2019.e263.

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.

摘要

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