RTA-美國著名醫(yī)學(xué)專家內(nèi)部資料課件

1、Tej K. Mattoo, MDProfessor of PediatricsChief, Pediatric Nephrology & HypertensionChildrens Hospital of MichiganDetroit, MIRenal Tubular AcidosisInability to Reclaim filtered HCO3 in proximal tubule(HCO3 filtered in adults =4500 mEq/day)and/orExcrete H+ in the distal tubuleNon-volatile acids tha

2、t need filtration/excretion(NVA generation = 0.8-1.0 mEq/kg/day)Types: I, II, III, IVProximal RTA (Type II)Diminished renal threshold for HCO3 reabsorptionNormal FeHCO3 20%Proximal RTAIsolated proximal RTASporadic: Infancy and transient (NHE3)Hereditary: Persistent Recessive (kNBC-1)- SLC4A4Dominant

3、 (NHE)- SLC9A3Fanconi syndromePrimaryGenetic (cystinosis)SporadicSecondarySecondary Causes of Fanconi SyndromeDysproteinemic states Galactosemia Hereditary fructose intoleranceLowes syndrome Metachromatic leukodystrophy Methylmalonic acidemia Monoclonal gammopathy Multiple myeloma Pyruvate carboxyla

4、se deficiency Tyrosinemia Wilsons disease Associated with chronic hypocalcemia and secondary hyperparathyroidism Vitamin D deficiency or resistance Vitamin D dependency Drug-induced or toxin-induced Arginine Gentamicin Glue (toluene) Lead Maleic acid Medullary cystic disease Mercury Methyl-3-chromon

5、e Outdated tetracyclines Renal transplantation Sjogrens syndrome Streptozotocin Tubulointerstitial diseases Other renal and miscellaneous diseases Amyloidosis Bone fibroma Nephrotic syndrome Osteopetrosis Paroxysmal nocturnal hemoglobinuria Severe burns Distal RTA (Type I)Inability of the distal ren

6、al tubule to lower urine pH to 10mEq/kg/dayK+ supplementsHydrochlothiazide/IndomethacinTreatmentDistal RTAHCO3 requirement 1-3 mEq/kg/dayK+ supplementationTreatmentType IV RTAAlkali administrationLoop or thaizide diureticDietary K+ restriction+Minerallocorticoid ConclusionsRTA has a complex but increasingly clear pathophysiology Diagnosis can be made early, particularly in those with a high index of suspicionDoing a blood gas during initial evaluation can be very helpful Treatment is simple, follow-up and monitoring of somatic growth and labs are very helpful.Significant prog