Svensk definition
En grupp genetiska tillstånd i njurkanalerna som karakteriseras av ansamling av metaboliskt producerade syror med förhöjd plasmaklorid, kloremisk metabolisk acidos. Bristfällig försurning av urin (proximala njurkanalerna) eller låg syrautsöndring (distala njurkanalerna) kan leda till komplikationer såsom hypokalemi, hyperkalciuri med nefrolitiasis och nefrokalcinos samt engelska sjukan.
Engelsk definition
A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.
Svenska synonymer
Renal tubulär acidos, typ II — Renal tubulär acidos, typ I
Engelska synonymer
Renal Tubular Acidosis — Renal Tubular Acidosis, Type II — Acidosis, Renal Tubular, Type II — Type II Renal Tubular Acidosis — RTA, Proximal Type — Proximal Type RTA — Proximal Type RTAs — RTAs, Proximal Type — Renal Tubular Acidosis, Proximal, with Ocular Abnormalities — Renal Tubular Acidosis, Proximal — Renal Tubular Acidosis II — Proximal Renal Tubular Acidosis — Renal Tubular Acidosis, Type I — Acidosis, Renal Tubular, Type I — Type I Renal Tubular Acidosis — Classic Distal Renal Tubular Acidosis — RTA, Gradient Type — Gradient Type RTA — Gradient Type RTAs — RTAs, Gradient Type — Renal Tubular Acidosis I — Autosomal Dominant Distal Renal Tubular Acidosis — Renal Tubular Acidosis 1 — RTA, Classic Type — Classic Type RTA — Classic Type RTAs — RTAs, Classic Type — RTA, Distal Type, Autosomal Dominant — Distal Renal Tubular Acidosis — Renal Tubular Acidosis, Distal, Autosomal Dominant