Presentation
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]
Entire Body System
- 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]
- Developmental Delay
They presented with early developmental delay with subsequent severe mental, behavioral and social impairment and autistic-like features. [ncbi.nlm.nih.gov]
delay Dysmorphic facies, strabismus, and sensorineural deafness Symptoms of renal colic may occur during as a result of calcium stones. [amboss.com]
- Weight Loss
A young female patient born to consanguineous parents was admitted to our clinic at the age of 3 years with a 5-month history of weight loss and recurrent urinary tract infections. [ncbi.nlm.nih.gov]
Symptoms of undiagnosed diabetes - eg, polyuria, polydipsia or weight loss. Symptoms of renal failure such as nocturia, polyuria, oliguria, pruritus and anorexia. Recent history of urinary problems such as nephrolithiasis may indicate RTA. [patient.info]
Gastrointestinal
- 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]
- 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]
- Loss of Appetite
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]
In particular 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. [flipper.diff.org]
Cardiovascular
- Palpitations
Ask about any chest pain, palpitations, dyspnoea or oedema indicating possible cardiovascular causes for lactic acidosis. Recent history of confusion, headache or visual changes may indicate poisoning, particularly with methanol or ethylene glycol. [patient.info]
Musculoskeletal
- Carpopedal Spasm
spasm Failure to thrive, developmental delay Dysmorphic facies, strabismus, and sensorineural deafness Symptoms of renal colic may occur during as a result of calcium stones. [amboss.com]
Psychiatrical
- Suggestibility
Antithyroid peroxidase and antithroglobulin antibodies were positive, suggesting an autoimmune basis for the pathogenesis of the functional tubular defect. Bicarbonate therapy resulted in a sustained clinical recovery. [ncbi.nlm.nih.gov]
Neurologic
- Generalized Tonic-Clonic Seizure
Keywords: Distal renal tubular acidosis, fractional excretion of bicarbonate, generalized tonic clonic seizures, ventricular tachycardia How to cite this article: Mohsin N, Dandroo JM, Rather SA, Nabi F. [journal-ina.com]
Urogenital
- Kidney Failure
This alkali therapy also helps decrease the development of kidney stones and stabilizes kidney function so kidney failure does not progress. [niddk.nih.gov]
Without treatment, RTA can affect a child's growth and cause kidney stones, fatigue, muscle weakness, and other symptoms. Over time, untreated acidosis can lead to long-term problems like bone disease, kidney disease, and kidney failure. [kidshealth.org]
- 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]
Workup
[…] 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]
X-Ray
- 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]
Serum
- Base Deficit
Base deficit does not predict mortality when secondary to hyperchloremic acidosis. Shock 2002;17:459-62. 12. Lee HY, Joo HY, Han DS. Serum electrolyte and acid base composition in patients with graded degrees of chronic renal failure. [journal-ina.com]
The base excess or base deficit is usually given as a part of the blood gas result and allows a determination of the overall severity of the acidosis, particularly where respiratory compensation complicates the picture. [patient.info]
QT, RR, ST Intervals
- 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
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]
Prognosis
[…] 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]
Etiology
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]
Epidemiology
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]
Pathophysiology
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]
Prevention
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]