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]

Childhood presentation of distal RTA includes vomiting, failure to thrive, metabolic acidosis, and hypokalemia. [indianjnephrol.org]

• Asymptomatic

  His sister was asymptomatic but the urine pH level could not be lowered to below 5.50 after a short acid load. Both siblings had compound heterozygous SLC4A1 SAO/R602H mutations. [ncbi.nlm.nih.gov]

  Nephrocalcinosis (deposition of calcium in the substance of the kidney) Bone demineralisation (causing rickets in children and osteomalacia in adults)The symptoms and sequelae of dRTA are variable and range from being completely asymptomatic, to loin [en.wikipedia.org]

  Growth failure should be actively searched for even in asymptomatic patients. [endocrine-abstracts.org]

  Patients with dRTA can be asymptomatic or can present with polyuria, polydipsia, weakness and fatigue (symptoms associated with hypokalemia). [orpha.net]

• Short Stature

  A 23-year-old man presented with osteoporosis, revealed by femoral fractures, and a history of nephrolithiasis, short stature, metabolic acidosis, hypokalemia and ovalocytosis, a red blood cell abnormality common in malaria endemic regions. [ncbi.nlm.nih.gov]

• Pallor

  General examination revealed mild pallor and normal vital parameters. Examination of the central nervous system revealed hypotonia with grade 3 power, proximally and distally, in all four limbs. No neck muscle weakness was present. [mjdrdypu.org]

  The hydropic female newborn had intense pallor, generalized edema, prominent ascites, and massive hepatosplenomegaly (weight, 2445 g; Apgar scores, 2, 8, and 9). [bloodjournal.org]

  In undiagnosed renal failure there may be dryness of mouth, eyes and skin, scratch marks on skin, pallor, drowsiness and fetor. [patient.info]

• Dyspnea

  We report a 53-year-old Turkish female presented with progressive weakness and mild dyspnea. Laboratory results demonstrated severe hypokalemia with hyperchloremic metabolic acidosis. [ncbi.nlm.nih.gov]

  Dyspnea may be experienced in patients with severe acidosis. Patients with distal (type 1) RTA may present with signs and symptoms of renal colic. 3. [clinicaladvisor.com]

• 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]

• Vomiting

  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]

• Polydipsia

  In children affected by dRTA there is stunted growth, vomiting, constipation, loss of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and muscle paralysis due to hypokalaemia. [ncbi.nlm.nih.gov]

  Clinical Manifestations In children the clinical spectrum is nonspecific including anorexia, failure to thrive, vomiting and dehydration, constipation, polyuria, and polydipsia. [renaltube.com]

  […] vitamin D toxicity, sarcoidosis ) Medullary sponge kidney Chronic obstructive uropathy Sickle cell nephropathy Wilson's disease Renal transplant rejection Drugs: ifosfamide, amphotericin B ;, lithium, NSAIDs Clinical features Nephrocalcinosis Polyuria → polydipsia [amboss.com]

  No significant past medical history could be elicited except for polyuria and polydipsia for last 1 month. Antenatal, perinatal, and development history was unremarkable. [indianjnephrol.org]

  Presentation: Polyuria, polydipsia, proximal myopathy. Osteomalacia or rickets. Investigations: Hypokalaemia, hyperchloraemic metabolic acidosis. Treatment: High doses of bicarbonate are required but the prognosis is good. [patient.info]

• Nausea

  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]

• Lethargy

  Examination Lethargy, stupor and progression to a state of coma may occur, particularly in cases of poisoning. An intoxicated-appearing patient who has no smell of alcoholic drink on their breath may have ingested ethylene glycol. [patient.info]

• Nocturia

  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]

[…] 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 blood gas analysis be part of the diagnostic workup of short children? Auxological data and blood gas analysis in children with renal tubular acidosis. [medigraphic.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: http://dx.doi.org/10.1159/000314967. [revistaalergia.mx]

Advise on discharge: to come after two weeks for RTA WORKUP ABDEC DROPS 6 DROPS OD FEEDING AS ADVISED. [terve.fi]

• Nephrolithiasis

  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]

  Nephrolithiasis, which may occur in any of the subsets of type I renal tubular acidosis, accounts for most of the morbidity in adults and adolescents. Major risk factors for nephrolithiasis include alkaline urine, hypercalciuria and hypocitraturia. [doi.org]

• 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]

From review of pediatrics texts from 1830 to 1850, a recommended treatment plan would have included (1) general measures such as country air and exercise, and fish oils such as cod and halibut (vitamin D), and (2) specific treatments of tonics (containing [doi.org]

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

Prognosis Hereditary dRTA is a permanent circumstance, with an excellent prognosis if therapy is established as soon as possible. Complications Chronic renal failure can be a complication of untreated nephrocalcinosis. [renaltube.com]

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]

References: [1] [2] [3] [4] Type 1 renal tubular acidosis Pathophysiology : inability of the intercalated cells of the distal tubu le to secrete H + Etiology Sporadic type 1 RTA ( idiopathic ) Familial type 1 RTA (inherited genetic defects) Autosomal [amboss.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]

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]

Renal tubular acidosis Microchapters Home Patient Information Overview Historical Perspective Classification Pathophysiology Causes Differentiating Renal tubular acidosis from other Diseases Epidemiology and Demographics Risk Factors Screening Natural [wikidoc.org]

Summary Epidemiology Prevalence of dRTA is unknown but is often underreported. [orpha.net]

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]

C06267 ] Drug Potassium citrate [DR: D05578 ] Sodium bicarbonate [DR: D01203 ] Other DBs ICD-11: GB90.44 ICD-10: N25.8 MeSH: D000141 OMIM: 179800 267300 602722 Reference PMID: 19721811 Authors Pereira PC, Miranda DM, Oliveira EA, Silva AC Title Molecular pathophysiology [genome.jp]

References: [1] [2] [3] [4] Type 1 renal tubular acidosis Pathophysiology : inability of the intercalated cells of the distal tubu le to secrete H + Etiology Sporadic type 1 RTA ( idiopathic ) Familial type 1 RTA (inherited genetic defects) Autosomal [amboss.com]

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]

Correcting acidosis and low potassium levels restores normal growth patterns, allowing bone to mature while preventing further renal disease. Vitamin D supplements may also be needed to help prevent bone problems. [niddk.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]