Acidose Tubular Renal Distal: Expressão Clínica Variável na Mesma Família

Primary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected. The first case was diagnosed in a 3-year-old child presenting with hematuria and urolithiasis. Later, his sister, sons and two nephews were studied. Although asymptomatic, they all had nephrocalcinosis and hyperchloremic metabolic acidosis with normal anionic gap, except one case with normal arterial blood gas test but with nephrocalcinosis and inability of urinary acidification. At follow-up, they all maintained nephrocalcinosis, the index case had acute renal damage and developed hypertension, but none developed chronic renal disease. The diagnosis of autosomal dominant distal renal tubular acidosis is generally made later and patients tend to present with milder disease. But the condition may manifest early and have a variable phenotypic severity spectrum. Carrying out screening through assessment of family history enables an earlier diagnosis while also allowing treatment to start sooner.

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Long-term follow-up in distal renal tubular acidosis with sensorineural deafness

Pediatric Nephrology ◽

10.1007/pl00013449 ◽

2000 ◽

Vol 15 (1-2) ◽

pp. 63-65 ◽

Cited By ~ 6

Author(s):

R. Peces

Keyword(s):

Renal Tubular Acidosis ◽

Sensorineural Deafness ◽

Distal Renal Tubular Acidosis ◽

Long Term Follow Up ◽

Renal Tubular

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Anesthetic Management of a Surgical Patient with Chronic Renal Tubular Acidosis Complicated by Subclinical Hypothyroidism

Case Reports in Anesthesiology ◽

10.1155/2016/2434381 ◽

2016 ◽

Vol 2016 ◽

pp. 1-4

Author(s):

Hiroe Yoshioka ◽

Haruyuki Yamazaki ◽

Rie Yasumura ◽

Kosuke Wada ◽

Yoshiro Kobayashi

Keyword(s):

Renal Tubular Acidosis ◽

Subclinical Hypothyroidism ◽

Anesthetic Management ◽

Blood Gas Analysis ◽

Complete Recovery ◽

Gas Analysis ◽

Surgical Patient ◽

Arterial Blood Gas ◽

Arterial Blood ◽

Renal Tubular

A 53-year-old man with chronic renal tubular acidosis and subclinical hypothyroidism underwent lower leg amputation surgery under general anesthesia. Perioperative acid-base management in such patients poses many difficulties because both pathophysiologies have the potential to complicate the interpretation of capnometry and arterial blood gas analysis data; inappropriate correction of chronic metabolic acidosis may lead to postoperative respiratory deterioration. We discuss the management of perioperative acidosis in order to achieve successful weaning from mechanical ventilation and promise a complete recovery from anesthesia.

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Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute

Journal of Pediatric Genetics ◽

10.1055/s-0041-1724114 ◽

2021 ◽

Author(s):

Lesa Dawman ◽

Karalanglin Tiewsoh ◽

Prabal Barman ◽

Kambagiri Pratyusha ◽

Lalawmpuia Chaakchhuak ◽

...

Keyword(s):

Renal Tubular Acidosis ◽

Serum Potassium ◽

Age At Onset ◽

Genetic Defect ◽

Distal Renal Tubular Acidosis ◽

Response To Treatment ◽

Indian Children ◽

Medullary Nephrocalcinosis ◽

Renal Tubular

AbstractPrimary distal renal tubular acidosis (dRTA) or Type 1 RTA in children is caused by a genetic defect (involved genes ATP6V0A4, ATP6V1B1, SLC4A1, FOXI1, or WDR72), which causes tubular transport defects characterized by an inability to appropriately acidify urine with resultant persistent hyperchloremic metabolic acidosis. Retrospective analysis of 28 children (14 males) under the age of 14 years with dRTA seen from 2010 to 2019 was reviewed, and detailed clinic records were analyzed. The clinical features, investigations, and response to treatment were recorded. The median age of the children at presentation was 30 months (range: 9.25–72 months), and the median age at onset of symptoms was 2 months. All the children had growth failure, polyuria, and polydipsia at presentation. Mean serum potassium, pH, bicarbonate, and anion gap at presentation was 2.3 ± 0.5 mmol/L, 7.22 ± 0.09, 13.28 ± 4.37 mmol/L, and 9.3 ± 2.18, respectively. Mean serum potassium, pH, bicarbonate at follow-up was 3.88 ± 0.6 mmol/L, 7.35 ± 0.06, and 20.13 ± 4.17 mmol/L, respectively. The median z-score for the weight for age and height for age at initial presentation was −4.77 (–7.68 to –3.74) and –4.21 (–5.42 to –2.37) and at follow-up was –3.35 (–5.29 to –1.55) and –3.84 (–5.36 to –1.63), respectively. Twenty-two (78.6%) children had medullary nephrocalcinosis. Four children had sensorineural hearing loss. Seven children had genetic testing done, and six had pathogenic or likely pathogenic variants in ATP6V1B1 and ATP6V0A4 gene. Children with dRTA have a guarded prognosis and ATP6V1B1 and ATP6V0A4 mutations are the most common implicated genetic defect in Indian children with distal RTA.

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Hearing impairment in association with distal renal tubular acidosis among Saudi children

The Journal of Laryngology & Otology ◽

10.1017/s0022215100131706 ◽

1995 ◽

Vol 109 (10) ◽

pp. 930-934 ◽

Cited By ~ 21

Author(s):

Siraj M. Zakzouk ◽

Samia H. Sobki ◽

Faizeh Mansour ◽

Fatma H. Al Anazy

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Renal Tubular Acidosis ◽

Genetic Disorder ◽

Distal Renal Tubular Acidosis ◽

Sensorineural Hearing ◽

Arranged Marriages ◽

Renal Tubular ◽

Tribal Tradition ◽

Conductive Hearing

AbstractA follow-up of seven patients with the autosomal recessive inherited syndrome of distal renal tubular acidosis (RTA) and sensorineural hearing loss is described. Five patients were diagnosed as having primary distal renal tubular acidosis and rickets, four were found to have severe sensorineural hearing loss of over 80 dB: two of which are brothers. Two patients were diagnosed as having secondary distal renal acidosis due to a genetic disorder called osteopetrosis; they are brothers and their audiograms showed a mild conductive hearing loss of an average 35 dB bilaterally. All patients had growth retardation with improvement due to alkaline therapy but their hearing loss was not affected by the medication. The pedigrees of two families with half sibs showed the familial incidence for consanguineous marriage. Consanguinity was found to be positive in five out of the seven patients. The tribal tradition in Saudi Arabia fosters consanguineous marriages for cultural and social reasons and pre-arranged marriages are still seen.

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Distal Renal Tubular Acidosis in Adolescence with Severe Growth Retardation and Nephrocalcinosis

Journal of Nepal Medical Association ◽

10.31729/jnma.363 ◽

2012 ◽

Vol 52 (187) ◽

Author(s):

M R Sigdel ◽

M P Kafle ◽

K B Raut

Keyword(s):

Metabolic Acidosis ◽

Weight Gain ◽

Renal Tubular Acidosis ◽

Growth Retardation ◽

Growth Velocity ◽

Distal Renal Tubular Acidosis ◽

Alkali Therapy ◽

Renal Tubular ◽

Severe Growth

Chronic acidosis is an important, often overlooked cause of growth retardation. Here we present the case of a girl with distal renal tubular acidosis who had visited multiple hospitals before the diagnosis was made. She presented to us in adolescence with non anion gap metabolic acidosis, hypokalemia, severe growth retardation and nephrocalcinosis. In 18 months follow up with alkali therapy, she had good weight gain and growth velocity. Keywords: growth retardation; hypokalemia; nephrocalcinosis; renal tubular acidosis.

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Clinical, Paraclinical Characteristics in Children with Renal Tubular Acidosis

VNU Journal of Science Medical and Pharmaceutical Sciences ◽

10.25073/2588-1132/vnumps.4163 ◽

2019 ◽

Vol 35 (1) ◽

Author(s):

Nguyen Thanh Tung ◽

Nguyen Thu Huong ◽

Pham Van Dem ◽

Nguyen Thi Quynh Huong

Keyword(s):

Renal Tubular Acidosis ◽

Clinical Signs ◽

Distal Renal Tubular Acidosis ◽

Renal Tubules ◽

Nephrol Dial Transplant ◽

Long Term Outcome ◽

Female Ratio ◽

Arterial Blood ◽

Renal Tubular

This descriptive study describes the clinical, paraclinical characteristics in children with renal tubular acidosis. In this study, 36 children with renal tubular acidosis were hospitalized in the National Hospital of Pediatrics from June, 2012 to July, 2017. Among the patients, 64.0% were male; the male/female ratio was 1.8/1. The average age of the patients was 7.7 ± 4.6 years. There were 29 type 1 renal tubular acidosis patients (80.6%) and 7 type 2 renal tubular acidosis (19.6%). The most common clinical signs were slow weight gain (100%), polyuria and vomiting were 25.7%, excessive water drinking (16.7%), diarrhea (13.9%), weak lower limb (11.1%), and apnea (8.3%). The laboratory values on admission were: blood pH 7.23 ± 0.11; HCO3- 12.5 ± 5.07; serum sodium 136 ± 7mmol/l; potassium 2.9 ± 0.5 mmol/l; chloride 112 ± 9 mmol/l. The study concludes that 53.8% of the clinical, paraclinical characteristics in children with Renal Tubular Acidosis were inconspicuousness, which effected the children’s growth. The study recommends a long-term strategy for diagnosis and follow–up treatment of renal tubular acidosis. Keywords Renal tubular acidosis, Fanconi syndrome. References [1] Edyta Golembiewska and Kazimierz Ciechanowski, Renal tubular acidosis—underrated problem?, Acta biochimica polonica. 59(2) (2012) 213-215.[2] WHO (2011), Haemoglobin concentrations for the diagnosis of annaemia and assessment of severity, VMNIS, 1.[3] A.P. Sharma, R.K. Sharma, R. Kapoor, et al, Incomplete distal renal tubular acidosis affects growth in children, Nephrol Dial Transplant. 22 (10) (2007) 2879-2783.[4] WHO Child Growth Standards: Methods and development, tại trang web http://www.who.int/childgrowth/standards/technical_report/en/, truy cập ngày 30/10/2018.[5] A. Bagga Bajpai, P. Hari, A. Bardia, et al, Long-term outcome in children with primary distal renal tubular acidosis, Indian Pediatr. 42(4) 321 -328.[6] J.C. Chan, F. Santos, Renal tubular acidosis in children, Diagnosiseatment and prognosis., Am J Nephrol. 6(4) (2005) 289-294.[7] Symptoma Renal Tubular Acidosisuy, tại trang web https://www.symptoma.com/en/info/renal-tubular-acidosis, truy cập ngày 30/10/2018.[8] Julian Yaxley, Christine Pirrone, Review of the Diagnostic Evaluation of Renal Tubular Acidosis, Ochsner J. 16(4) (2016) 525-232.[9] Pramod Sood, Gunchan Paul, and Sandeep Puril, Interpretation of arterial blood gas, Indian J Crit Care Med. 14(2) (2010) 57-63.[10] J.L. Wilson, A.M. Butler, S. Farber, Dehydration and acidosis with calcification at renal tubules, The Journal of Pediatrics. 8 (2006) 489-494.

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Prospective long-term evaluation of incomplete distal renal tubular acidosis in idiopathic calcium nephrolithiasis diagnosed (treated) by low-dose NH4CL loading – gender prevalences and impact of alkali treatment

Journal of Nephrology ◽

10.1007/s40620-021-01207-7 ◽

2022 ◽

Author(s):

Juri Sromicki ◽

Georg Kacl ◽

Malin Föhl ◽

Bernhard Hess

Keyword(s):

Calcium Phosphate ◽

Renal Tubular Acidosis ◽

Alkali Treatment ◽

Distal Renal Tubular Acidosis ◽

Urine Ph ◽

Calcium Stone ◽

Stone Formers ◽

Alkali Therapy ◽

Renal Tubular

Abstract Purpose Prospective evaluation of the prevalence of incomplete distal renal tubular acidosis (idRTA) in idiopathic calcium stone formers (ICSF) diagnosed by half-dose ammonium chloride loading (NH4Cl, 0.05 g/kg body weight/day) and impact of alkali treatment of idRTA. Methods Evaluation of 386 consecutive idiopathic calcium stone formers (ICSF) (280 males, 106 females) for idRTA. If screening fasting urine pH was > 5.80, 1-day NH4Cl loading was performed without severe adverse effects. Normally, urine pH falls below 5.45. Results Sixty-four idiopathic calcium stone formers exhibited idRTA, one complete dRTA. Prevalence was higher in women (25.4%) than in men (13.6%). Thus, for more equilibrated comparisons, we formed pairs of 62 idiopathic calcium stone formers (ICSF) with and 62 without idRTA, matched for gender, age, BMI and serum creatinine. Idiopathic calcium stone formers with idRTA more often had hypercalciuria (p < 0.025) and urine citrate < 2 mmol/d (p < 0.05), formed calcium phosphate stones more frequently, exhibited higher numbers of stones/year (1.4 ± 1.5 vs. 0.9 ± 0.8, p = 0.034) and 2.5 times more intrarenal calcifications (4.6 ± 5.9 vs. 1.8 ± 3.6, p = 0.002). All idiopathic calcium stone formers with idRTA were recommended chronic alkali therapy. After 4–15 years of follow-up, stone events /years follow-up (stone passage or urologic intervention) were higher in patients non-adherent to alkali therapy (0.61 ± 0.92) than in patients adherent to treatment (0.11 ± 0.21, p = 0.006). Conclusion Incomplete distal renal tubular acidosis is 1.8-fold more prevalent among female idiopathic calcium stone formers, predicts more stone recurrences, predisposes to calcium phosphate stones and is associated with 2.5 times more intrarenal calcifications vs. non-idRTA patients. Chronic alkali treatment reduces clinical stone recurrences by 5.5 times. Graphical abstract

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