Edit concept Question Editor Create issue ticket

Distal Renal Tubular Acidosis



  • By presenting this case we aim to not only highlight one of the rare presentations of Sjogren's syndrome but also the favourable response of our patient to potassium replacement alone.[ncbi.nlm.nih.gov]
Weight Gain
  • In 18 months follow up with alkali therapy, she had good weight gain and growth velocity.[ncbi.nlm.nih.gov]
Poor Feeding
  • The patient showed failure to thrive, poor feeding, hypotonia and vomiting crisis in absence of inborn errors of metabolism.[ncbi.nlm.nih.gov]
Failure to Thrive
  • We suggest that RTA be considered a diagnostic possibility in all children with failure to thrive and nephrocalcinosis.[ncbi.nlm.nih.gov]
  • Since causes of nausea and vomiting among HIV/AIDS patients are very diverse, awareness of this phenomenon is useful in diagnosing and managing the problem.[ncbi.nlm.nih.gov]
  • Since causes of nausea and vomiting among HIV/AIDS patients are very diverse, awareness of this phenomenon is useful in diagnosing and managing the problem.[ncbi.nlm.nih.gov]
  • The patient denied associated fever, nausea, vomiting, diarrhea, or recent illness prior to this admission. She noted recent polyuria prior to presentation, but denied dysuria or hematuria.[shmabstracts.com]
  • For some kids, the first symptom of RTA is kidney stones, which can cause symptoms like: pain in the back or side that spreads to the lower abdomen pain while urinating pee that is red, brown, or cloudy frequent urge to urinate nausea and vomiting Over[kidshealth.org]
  • Confusion Nausea Fatigue Vomiting ( 10 ). If your child experiences pain during urination, needs to urinate frequently, has cloudy or red/brown urine then these could be signs of kidney stones and hence RTA.[momjunction.com]
  • Nausea, vomiting and anorexia are frequently present, particularly in children. Metabolic acidosis occurring in children is very rarely due to an inborn error of metabolism (conditions such as moderately severe gastroenteritis being more common).[patient.info]
Proximal Muscle Weakness
  • Hypokalemic paralysis, proximal muscle weakness and voiding difficulty were the common modes of presentation. Doubling of serum creatinine during the study period was noted in 13 out of 27 patients who had GFR 60 mL/min (P[ncbi.nlm.nih.gov]
Bulbous Nose
  • Their facial features are unique with prominent cheeks, well-defined philtrum, large bulbous nose, V-shaped upper lip border, full lower lip, open mouth with protruded tongue, and pits on the ear lobule.[ncbi.nlm.nih.gov]
Prominent Cheeks
  • Their facial features are unique with prominent cheeks, well-defined philtrum, large bulbous nose, V-shaped upper lip border, full lower lip, open mouth with protruded tongue, and pits on the ear lobule.[ncbi.nlm.nih.gov]
  • Symptoms of renal failure such as nocturia, polyuria, oliguria, pruritus and anorexia. Recent history of urinary problems such as nephrolithiasis may indicate RTA. Recent history of severe or prolonged diarrhoea. Recent nutritional status.[patient.info]
Decreased Renal Function
  • Three (17.6%) patients had decreased renal function (chronic kidney disease stage 2), and five (29.4%) patients had persistent growth retardation at the last follow-up. Long-term prognosis showed no genotype-phenotype correlation.[ncbi.nlm.nih.gov]


  • […] incomplete and only develop in the presence of an acid load occurs despite a normal or only mildly reduced glomerular filtration rate (GFR) causes are numerous poorly understood by many physicians RTA is often detected incidentally through an abnormal blood workup[lifeinthefastlane.com]
  • Should gas analysis be part of the diagnostic workup of short children? Auxological data and blood gas analysis in children with renal tubular acidosis. Horm Res Paediatr. 2010;74(5):351-357. DOI: .[revistaalergia.mx]
  • This is the first demonstration of renal acidification defects and nephrolithiasis in heterozygous carriers of a mutant B1 subunit that cannot be attributable to negative dominance.[ncbi.nlm.nih.gov]
Small Kidney
  • Renal ultrasound examinations revealed small kidneys, with varying degrees of hyperechogenicity and nephrocalcinosis. Additional findings included dilated ventricles and cerebral demyelination on brain imaging studies.[ncbi.nlm.nih.gov]
Increased Bone Density
  • Clinical manifestations of this autosomal recessive syndrome comprise increased bone density, growth failure, intracerebral calcification, facial dysmorphism, mental retardation, and conductive hearing impairment.[ncbi.nlm.nih.gov]
  • The constellation of clinical and biochemical findings in this patient is unique but the pathogenesis of erythrocytosis is not clearly explained.[ncbi.nlm.nih.gov]
Prolonged QT Interval
  • Electrocardiogram showed rate 140/min, electrical alternans, multifocal ventricular ectopics, ventricular reentrant beats, ventricular couplets, and prolonged qT interval (corrected qT 512 ms). Echocardiogram was normal.[ijccm.org]
  • Serum level of potassium was 1.5 meq/l and electrocardiogram showed prolonged QT interval, ST depression, T wave flattening in V1-V4, and the presence of 'U' waves. Child was given potassium replacement therapy and recovered from paralysis.[indianjnephrol.org]


  • Treatment to correct the acidosis and hyperkalemia should be promptly initiated, and the tacrolimus dose adjusted when possible.[ncbi.nlm.nih.gov]


  • […] distal renal tubular acidosis (dRTA) presents itself with variable clinical manifestations and often with late expressions that impact on prognosis.[ncbi.nlm.nih.gov]


  • Of these stone 1,093 patients were included in study who had an available etiological diagnosis and stones containing at least 70% of calcium phosphate without struvite.[ncbi.nlm.nih.gov]
  • Etiology Genetic Disease Carbonic Anhydrase I (CA-I) Deficiency/Alteration Ehlers-Danlos Syndrome (see Ehlers-Danlos Syndrome, [[Ehlers-Danlos Syndrome]]) Familial Type 1 Distal Renal Tubular Acidosis Autosomal Dominant Autosomal Recessive Hereditary[mdnxs.com]


  • Rotterdam, The Netherlands. 4 Division of Clinical Immunology, Department of Internal Medicine, PO Box 2040, Room D-419, 3000 CA, Rotterdam, The Netherlands. 5 Department of Immunology, Erasmus Medical Center, Rotterdam, The Netherlands. 6 Department of Epidemiology[ncbi.nlm.nih.gov]
  • Summary Epidemiology Prevalence of dRTA is unknown but is often underreported.[orpha.net]
  • EPIDEMIOLOGY DRTA belongs to the group of renal genetic diseases with a very low incidence in any population. There are no widely accepted statistics on the rate of RTA.[flipper.diff.org]
  • References: [6] [7] Bartter syndrome Definition : : a group of rare genetic disorders ; ( autosomal recessive or dominant ) that affect chloride reabsorption in the ascending limb of the loop of Henle Epidemiology Prevalence : 1/1,000,000 Etiology Type[amboss.com]
Sex distribution
Age distribution


  • We herein present a case of marked hypokalemia accompanied by distal renal tubular acidosis in which a PPI appeared to contribute to the pathophysiology of metabolic acidosis.[ncbi.nlm.nih.gov]
  • Acidosis Renal Tubular Kidney Calculi Nephrolithiasis The pathophysiology of renal tubular acidosis (RTA) seems well worked out.[cjasn.asnjournals.org]
  • In dRTA, the potassium level can be low, normal, or even high depending upon the pathophysiologic abnormality. Early recognition and prompt treatment is imperative to avoid the serious consequences of severe electrolyte and metabolic disturbances.[sciencedomain.org]


  • To prevent the nephrocalcinosis from deteriorating, she was given potassium-sodium citrate. Since administration, she has not experienced spontaneous stone passage or renal colic.[ncbi.nlm.nih.gov]
  • There is no prevention for this disorder. Renal tubular acidosis - distal; Renal tubular acidosis type I; Type I RTA; RTA - distal; Classical RTA Bose A, Monk RD, Bushinsky DA. Kidney stones. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds.[nlm.nih.gov]
  • Get medical help right away if you develop emergency symptoms such as: Decreased consciousness Seizures Prevention There is no prevention for this disorder. Images References Krapf R, Seldin DW, Alpern RJ. Clinical syndromes of metabolic acidosis.[ufhealth.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!