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1.
Oral Dis ; 26(2): 295-301, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31514257

RESUMO

OBJECTIVE: This study systematically aims to evaluate the salivary microbiome in patients with primary Sjögren's syndrome (pSS) using 16S rRNA sequencing approach. METHODS: DNA isolation and 16S rRNA sequencing was performed on saliva of 37 pSS and 35 control (CC) samples on HiSeq 2500 platform. 16S rRNA sequence analysis was performed independently using two popular computational pipelines, QIIME and less operational taxonomic units scripts (LoTuS). RESULTS: There were no significant changes in the alpha diversity between saliva of patients and controls. However, four genera including Bifidobacterium, Lactobacillus, Dialister and Leptotrichia were found to be differential between the two sets, and common between both QIIME and LoTuS analysis pipelines (Fold change of 2 and p < .05). Bifidobacterium, Dialister and Lactobacillus were found to be enriched, while Leptotrichia was significantly depleted in pSS compared to the controls. Exploration of microbial diversity measures (Chao1, observed species and Shannon index) revealed a significant increase in the diversity in patients with renal tubular acidosis. An opposite trend was noted, with depletion of diversity in patients with steroids. CONCLUSION: Our analysis suggests that while no significant changes in the diversity of the salivary microbiome could be observed in Sjögren's syndrome compared to the controls, a set of four genera were significantly and consistently differential in the saliva of patients with pSS. Additionally, a difference in alpha diversity in patients with renal tubular acidosis and those on steroids was observed.


Assuntos
Bactérias/classificação , Microbiota , Saliva/microbiologia , Síndrome de Sjogren/microbiologia , Acidose Tubular Renal/tratamento farmacológico , Acidose Tubular Renal/microbiologia , Adulto , Bactérias/genética , Bactérias/isolamento & purificação , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Microbiota/genética , RNA Ribossômico 16S/genética
2.
Acta Med Port ; 32(7-8): 542-545, 2019 Aug 01.
Artigo em Português | MEDLINE | ID: mdl-31445535

RESUMO

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.


Assuntos
Acidose Tubular Renal/diagnóstico , Doenças Assintomáticas , Saúde da Família , Nefrocalcinose/diagnóstico , Acidose Tubular Renal/tratamento farmacológico , Acidose Tubular Renal/genética , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Nefrocalcinose/genética , Linhagem , Irmãos , Urolitíase/diagnóstico , Urolitíase/genética
3.
Acta Biomed ; 90(2): 348-352, 2019 05 23.
Artigo em Inglês | MEDLINE | ID: mdl-31125018

RESUMO

INTRODUCTION: Distal renal tubular acidosis is a rare genetic disease, characterised by deficit in renal tubular transport. Clinical features are metabolic acidosis with hypercloraemia and hypokalemia, and inability in urine acidification. Hypercalciuria may also be present, often treated with the use of a diuretic therapy with thiazides. CASE PRESENTATION: We present a severe disease onset in a neonate with consanguineous parents, both autosomal-recessive for an ATP6VOA4 gene mutation, and a nevertheless severe episode of metabolic alkalosis, occurred in the same patient after few months, during the diuretic therapy. CONCLUSION: Biochemical results lead us to hypothesize a susceptibility to the treatment that need further investigations.


Assuntos
Acidose Tubular Renal/tratamento farmacológico , Alcalose/etiologia , Diuréticos/efeitos adversos , ATPases Mitocondriais Próton-Translocadoras/genética , Tiazidas/efeitos adversos , Acidose Tubular Renal/diagnóstico , Alcalose/fisiopatologia , Análise Química do Sangue , Consanguinidade , Diuréticos/uso terapêutico , Serviço Hospitalar de Emergência , Seguimentos , Disgenesia Gonadal 46 XY , Humanos , Recém-Nascido , Mutação , Doenças Raras , Índice de Gravidade de Doença , Tiazidas/uso terapêutico , Urinálise/métodos , Perda de Peso
4.
World J Pediatr ; 15(5): 422-431, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31079338

RESUMO

BACKGROUND: Distal renal tubular acidosis (dRTA) is a kidney tubulopathy that causes a state of normal anion gap metabolic acidosis due to impairment of urine acidification. This review aims to summarize the etiology, pathophysiology, clinical findings, diagnosis and therapeutic approach of dRTA, with emphasis on genetic causes of dRTA. DATA SOURCES: Literature reviews and original research articles from databases, including PubMed and Google Scholar. Manual searching was performed to identify additional studies about dRTA. RESULTS: dRTA is characterized as the dysfunction of the distal urinary acidification, leading to metabolic acidosis. In pediatric patients, the most frequent etiology of dRTA is the genetic alteration of genes responsible for the codification of distal tubule channels, whereas, in adult patients, dRTA is more commonly secondary to autoimmune diseases, use of medications and uropathies. Patients with dRTA exhibit failure to thrive and important laboratory alterations, which are used to define the diagnosis. The oral alkali and potassium supplementation can correct the biochemical defects, improve clinical manifestations and avoid nephrolithiasis and nephrocalcinosis. CONCLUSIONS: dRTA is a multifactorial disease leading to several clinical manifestations. Clinical and laboratory alterations can be corrected by alkali replacement therapy.


Assuntos
Acidose Tubular Renal/tratamento farmacológico , Acidose Tubular Renal/genética , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/fisiopatologia , Adolescente , Proteína 1 de Troca de Ânion do Eritrócito/genética , Criança , Humanos , Mutação , ATPases Vacuolares Próton-Translocadoras/genética
5.
J Med Case Rep ; 13(1): 103, 2019 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-31023369

RESUMO

BACKGROUND: Distal renal tubular acidosis is a relatively infrequent condition with complex pathophysiology that can present with life-threatening electrolyte abnormalities. CASE PRESENTATION: We describe a case of a 57-year-old Caucasian woman with previous episodes of hypokalemia, severe muscle weakness, and fatigue. Upon further questioning, symptoms of dry eye and dry mouth became evident. Initial evaluation revealed hyperchloremic metabolic acidosis, severe hypokalemia, persistent alkaline urine, and a positive urinary anion gap, suggestive of distal renal tubular acidosis. Additional laboratory workup and renal biopsy led to the diagnosis of primary Sjögren's syndrome with associated acute tubulointerstitial nephritis. After potassium and bicarbonate supplementation, immunomodulatory therapy with hydroxychloroquine, azathioprine, and prednisone was started. Nonetheless, her renal function failed to improve and remained steady with an estimated glomerular filtration rate of 42 ml/min/1.73 m2. The literature on this topic was reviewed. CONCLUSIONS: Cases of renal tubular acidosis should be carefully evaluated to prevent adverse complications, uncover a potentially treatable condition, and prevent the progression to chronic kidney disease. Repeated episodes of unexplained hypokalemia could be an important clue for diagnosis.


Assuntos
Acidose Tubular Renal/diagnóstico , Hipopotassemia/diagnóstico , Potássio/uso terapêutico , Síndrome de Sjogren/diagnóstico , Bicarbonato de Sódio/uso terapêutico , Oligoelementos/uso terapêutico , Equilíbrio Ácido-Base , Acidose Tubular Renal/tratamento farmacológico , Acidose Tubular Renal/fisiopatologia , Progressão da Doença , Feminino , Taxa de Filtração Glomerular , Humanos , Hipopotassemia/tratamento farmacológico , Imunomodulação , Pessoa de Meia-Idade , Síndrome de Sjogren/tratamento farmacológico , Síndrome de Sjogren/fisiopatologia , Resultado do Tratamento
6.
Pediatr Clin North Am ; 66(1): 135-157, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30454739

RESUMO

Renal tubular acidosis should be suspected in poorly thriving young children with hyperchloremic and hypokalemic normal anion gap metabolic acidosis, with/without syndromic features. Further workup is needed to determine the type of renal tubular acidosis and the presumed etiopathogenesis, which informs treatment choices and prognosis. The risk of nephrolithiasis and calcinosis is linked to the presence (proximal renal tubular acidosis, negligible stone risk) or absence (distal renal tubular acidosis, high stone risk) of urine citrate excretion. New formulations of slow-release alkali and potassium combination supplements are being tested that are expected to simplify treatment and lead to sustained acidosis correction.


Assuntos
Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/tratamento farmacológico , Acidose Tubular Renal/etiologia , Acidose Tubular Renal/fisiopatologia , Criança , Diagnóstico Diferencial , Humanos , Fatores de Risco
7.
Rheumatol Int ; 38(12): 2251-2262, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30155666

RESUMO

The objective of the study is to prospectively evaluate the spectrum of clinical and subclinical renal involvement in patients with primary Sjogren's syndrome (pSS). Of the 174 patients screened, seventy patients with pSS underwent renal function tests, urine examination, renal ultrasound, arterial blood gases, urine pH followed by urine acidification test and renal biopsy (if indicated). Renal tubular acidosis (RTA) was treated with alkali replacement and moderate-severe tubulointerstitial nephritis (TIN) was treated with oral prednisolone. Sixty-two patients completed 1-year follow-up. A comparison was made between patients with and without renal involvement. Thirty-five (50%) patients had renal involvement. They had a lower baseline eGFR (71.85 ± 18.04 vs. 83.8 ± 17, p = 0.005). Twenty-nine patients had RTA (25 complete and 4 incomplete). Eleven patients had urinary abnormalities. Patients with RTA (n = 29) were younger (34.9 ± 9 vs. 42 ± 11.3, p = 0.006), had fewer articular (34% vs. 78%, p = 0.001) and ocular sicca (62% vs. 88%, P = 0.01) than those without RTA (n = 41) and commonly presented with hypokalemic paralysis. On biopsy, TIN (9/17) and IgA nephropathy (3/17) were most common. On follow-up, there was no clinically significant change in eGFR; however, one patient with renal calculi and incomplete distal renal tubular acidosis (dRTA) progressed to complete dRTA. Two patients treated with steroids had marginal improvement in eGFR. Renal involvement in pSS is under-recognized with the most common manifestation being RTA presenting with hypokalemic paralysis. These patients are younger with less articular and sicca symptoms. Subclinical RTA may progress to complete RTA. Renal biopsy should be considered in all patients with renal involvement.


Assuntos
Acidose Tubular Renal/etiologia , Glomerulonefrite por IGA/etiologia , Rim , Nefrite Intersticial/etiologia , Síndrome de Sjogren/complicações , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/tratamento farmacológico , Acidose Tubular Renal/fisiopatologia , Adulto , Doenças Assintomáticas , Biópsia , Estudos de Casos e Controles , Feminino , Taxa de Filtração Glomerular , Glomerulonefrite por IGA/diagnóstico , Glomerulonefrite por IGA/fisiopatologia , Glucocorticoides/uso terapêutico , Humanos , Imunossupressores/uso terapêutico , Rim/efeitos dos fármacos , Rim/patologia , Rim/fisiopatologia , Masculino , Pessoa de Meia-Idade , Nefrite Intersticial/diagnóstico , Nefrite Intersticial/tratamento farmacológico , Nefrite Intersticial/fisiopatologia , Prednisolona/uso terapêutico , Estudos Prospectivos , Índice de Gravidade de Doença , Síndrome de Sjogren/diagnóstico , Síndrome de Sjogren/tratamento farmacológico , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
8.
Adv Chronic Kidney Dis ; 25(4): 303-320, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-30139458

RESUMO

Distal renal tubular acidosis (DRTA) is defined as hyperchloremic, non-anion gap metabolic acidosis with impaired urinary acid excretion in the presence of a normal or moderately reduced glomerular filtration rate. Failure in urinary acid excretion results from reduced H+ secretion by intercalated cells in the distal nephron. This results in decreased excretion of NH4+ and other acids collectively referred as titratable acids while urine pH is typically above 5.5 in the face of systemic acidosis. The clinical phenotype in patients with DRTA is characterized by stunted growth with bone abnormalities in children as well as nephrocalcinosis and nephrolithiasis that develop as the consequence of hypercalciuria, hypocitraturia, and relatively alkaline urine. Hypokalemia is a striking finding that accounts for muscle weakness and requires continued treatment together with alkali-based therapies. This review will focus on the mechanisms responsible for impaired acid excretion and urinary potassium wastage, the clinical features, and diagnostic approaches of hypokalemic DRTA, both inherited and acquired.


Assuntos
Acidose Tubular Renal/fisiopatologia , Hipopotassemia/etiologia , ATPases Vacuolares Próton-Translocadoras/genética , Acidose Tubular Renal/complicações , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/tratamento farmacológico , Proteína 1 de Troca de Ânion do Eritrócito/genética , Transporte Biológico , Anidrase Carbônica II/genética , Taxa de Filtração Glomerular , Humanos , Hipopotassemia/tratamento farmacológico , Hipopotassemia/urina , Túbulos Renais Distais/fisiopatologia , Mutação , Potássio/sangue , Potássio/urina
9.
Adv Chronic Kidney Dis ; 25(4): 351-357, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-30139461

RESUMO

Proximal renal tubular acidosis (pRTA) is an inherited or acquired clinical syndrome in which there is a decreased bicarbonate reclamation in the proximal tubule resulting in normal anion gap hyperchloremic metabolic acidosis. In children, pRTA may be isolated but is often associated with a general proximal tubular dysfunction known as Fanconi syndrome which frequently heralds an underlying systemic disorder from which it arises. When accompanied by Fanconi syndrome, pRTA is characterized by additional renal wasting of phosphate, glucose, uric acid, and amino acids. The most common cause of inherited Fanconi syndrome in the pediatric age group is cystinosis, a disease with therapeutic implications. In this article, we summarize the clinical presentation and differential diagnosis of pRTA and Fanconi syndrome and provide a practical approach to their evaluation in children.


Assuntos
Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/etiologia , Síndrome de Fanconi/etiologia , Acidose Tubular Renal/tratamento farmacológico , Acidose Tubular Renal/genética , Criança , Cistinose/complicações , Doença de Dent/complicações , Síndrome de Fanconi/tratamento farmacológico , Síndrome de Fanconi/genética , Humanos , Túbulos Renais Proximais , Síndrome Oculocerebrorrenal/complicações
10.
J Nippon Med Sch ; 85(2): 117-123, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29731495

RESUMO

A 61-year-old woman was admitted to our hospital because of muscle paralysis and was found to have severe hypokalemia. A gallium-67 scintigram revealed a positive accumulation in the bilateral salivary glands, and a labial minor salivary gland biopsy demonstrated a massive lymphocyte infiltrate around the salivary ducts. She was diagnosed with Sjögren's syndrome (SS) associated with renal tubular acidosis. Renal biopsy revealed tubulointerstitial nephritis with a mild focal infiltration of lymphocytes and plasma cells. These pathological features were compatible with SS with renal involvement. Acidosis and hypokalemia were corrected with sodium bicarbonate and potassium chloride, which relieved the patient's symptoms. Although steroid therapy has been reported to be effective in SS-associated tubulointerstitial nephritis, the patient's serum potassium level could be controlled without administering steroids during the first admission. Five years later, she was admitted again because of severe liver dysfunction attributed to autoimmune hepatitis. Oral administration of prednisolone resulted in the normalization of her transaminase levels, and the control of her serum potassium level became easier. It has been reported that patients with SS with salivary gland involvement tend to have hepatic complications, and those with hepatic complications tend to have renal involvement. Physicians should be aware of hepatic involvement, even if there is no liver dysfunction at the initial diagnosis of SS with salivary gland and renal involvement. It remains uncertain whether the administration of a low dose of steroids before the onset of autoimmune hepatitis might have prevented the development of liver dysfunction in our patient.


Assuntos
Acidose Tubular Renal/diagnóstico , Hepatite Autoimune/etiologia , Síndrome de Sjogren/diagnóstico , Acidose Tubular Renal/tratamento farmacológico , Acidose Tubular Renal/etiologia , Administração Oral , Feminino , Hepatite Autoimune/tratamento farmacológico , Hepatite Autoimune/prevenção & controle , Humanos , Hipopotassemia/tratamento farmacológico , Hipopotassemia/etiologia , Rim/patologia , Linfócitos/patologia , Pessoa de Meia-Idade , Nefrite Intersticial/diagnóstico , Nefrite Intersticial/etiologia , Nefrite Intersticial/patologia , Plasmócitos/patologia , Cloreto de Potássio/uso terapêutico , Prednisolona/administração & dosagem , Índice de Gravidade de Doença , Síndrome de Sjogren/complicações , Bicarbonato de Sódio/uso terapêutico
11.
Saudi J Kidney Dis Transpl ; 29(2): 470-473, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29657223

RESUMO

Interstitial nephritis and immune complex-mediated glomerulonephritis are the two common renal manifestations of primary Sjögren's syndrome (SS). Here, we discuss three cases of primary SS where presenting manifestation was distal renal tubular acidosis. The possibility of an underlying autoimmune disorder should be considered in a patient presenting with distal tubular acidosis or recurrent hypokalemic periodic paralysis as treatment of primary disease improves the outcome of illness.


Assuntos
Acidose Tubular Renal/imunologia , Paralisia Periódica Hipopotassêmica/imunologia , Síndrome de Sjogren/imunologia , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/tratamento farmacológico , Adulto , Biópsia , Suplementos Nutricionais , Feminino , Humanos , Hidroxicloroquina/uso terapêutico , Paralisia Periódica Hipopotassêmica/diagnóstico , Paralisia Periódica Hipopotassêmica/tratamento farmacológico , Túbulos Renais Distais/imunologia , Túbulos Renais Distais/patologia , Potássio/uso terapêutico , Recidiva , Glândulas Salivares/imunologia , Glândulas Salivares/patologia , Síndrome de Sjogren/complicações , Síndrome de Sjogren/diagnóstico , Síndrome de Sjogren/tratamento farmacológico , Esteroides/uso terapêutico , Resultado do Tratamento
13.
F1000Res ; 7: 1154, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30647907

RESUMO

Background: Hypokalemic periodic paralysis (HypoKPP) is characterized by transient episodes of flaccid muscle weakness. We describe the case of a teenaged boy with HypoKPP and hyperthyroidism due to Hashimoto's thyroiditis with initial manifestation of renal tubular acidosis. This combination is rare and little described previously in men. Case presentation: A 17-year-old boy was admitted after three days of muscular weakness and paresthesia in the lower limbs with an ascending evolution, leading to prostration. Decreased strength was found in the lower limbs without a defined sensory level, reduced patellar and ankle reflexes. Positive antithyroid antibodies were found. He received hydration treatment, IV potassium and levothyroxine, with which there was a clinical improvement. Other examinations led to the diagnosis of type 1 renal tubular acidosis. Conclusion: HypoKPP is a rare disorder characterized by acute episodes of muscle weakness. Type 1 renal tubular acidosis can occur as a consequence of thyroiditis, which is explained by the loss of potassium. This combination is unusually rare, and has not been described before in men. The etiopathogenesis of the disease as well as a dynamic explanation of what happened with the patient are discussed in this report.


Assuntos
Acidose Tubular Renal , Doença de Hashimoto , Paralisia Periódica Hipopotassêmica , Hipotireoidismo , Potássio/administração & dosagem , Tiroxina/administração & dosagem , Acidose Tubular Renal/sangue , Acidose Tubular Renal/tratamento farmacológico , Acidose Tubular Renal/patologia , Adolescente , Doença de Hashimoto/sangue , Doença de Hashimoto/tratamento farmacológico , Doença de Hashimoto/patologia , Humanos , Paralisia Periódica Hipopotassêmica/sangue , Paralisia Periódica Hipopotassêmica/tratamento farmacológico , Paralisia Periódica Hipopotassêmica/patologia , Hipotireoidismo/sangue , Hipotireoidismo/tratamento farmacológico , Hipotireoidismo/patologia , Masculino
14.
Adv Chronic Kidney Dis ; 24(5): 298-304, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-29031356

RESUMO

Subjects with CKD and reduced glomerular filtration rate are at risk for chronic metabolic acidosis, and CKD is its most common cause. Untreated metabolic acidosis, even in its mildest forms, is associated with increased mortality and morbidity and should therefore be treated. If reduced glomerular filtration rate or the tubule abnormality causing chronic metabolic acidosis cannot be corrected, it is typically treated with dietary acid (H+) reduction using Na+-based alkali, usually NaHCO3. Dietary H+ reduction can also be accomplished with the addition of base-producing foods such as fruits and vegetables and limiting intake of H+-producing foods like animal-sourced protein. The optimal dose of Na+-based alkali that prevents the untoward effects of metabolic acidosis while minimizing adverse effects and the appropriate combination of this traditional therapy with dietary strategies remain to be determined by ongoing studies. Recent emerging evidence supports a phenomenon of H+ retention, which precedes the development of metabolic acidosis by plasma acid-base parameters, but further studies will be needed to determine how best to identify patients with this phenomenon and whether they too should be treated with dietary H+ reduction.


Assuntos
Acidose/dietoterapia , Acidose/tratamento farmacológico , Dieta , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/fisiopatologia , Bicarbonato de Sódio/uso terapêutico , Equilíbrio Ácido-Base , Acidose/etiologia , Acidose/metabolismo , Acidose Tubular Renal/tratamento farmacológico , Animais , Bicarbonatos/sangue , Proteínas na Dieta , Frutas , Taxa de Filtração Glomerular , Humanos , Verduras
15.
BMJ Case Rep ; 20172017 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-28566416

RESUMO

This case report details a 51-year-old man with Alport's syndrome resulting in chronic nephritis with stable renal function and sensorineural deafness. The patient was being investigated for persistently raised potassium refractory to dietary and pharmacological modification. Subsequently, the patient was found to have type 4 renal tubular acidosis, and potassium normalised with the addition of fludrocortisone.


Assuntos
Acidose Tubular Renal/diagnóstico , Nefrite Hereditária/complicações , Acidose Tubular Renal/complicações , Acidose Tubular Renal/tratamento farmacológico , Anti-Inflamatórios/administração & dosagem , Anti-Inflamatórios/uso terapêutico , Diagnóstico Diferencial , Fludrocortisona/administração & dosagem , Fludrocortisona/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Potássio/administração & dosagem , Potássio/uso terapêutico
16.
Diabet Med ; 34(7): 1005-1008, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28375568

RESUMO

BACKGROUND: Type 4 renal tubular acidosis causes hyperkalaemia, for which diabetes and medications commonly used in this patient group are aetiological factors. Here we describe the novel use of fludrocortisone in this difficult condition. CASE REPORT: A 55-year-old woman with complex co-morbidities, including Type 2 diabetes (HbA1c 37 mmol/mol 5.5%), was admitted with renal failure. Bloods on admission: eGFR 25 ml/min, creatinine 184 ?mol/L, urea 35.9 mmol/L, sodium 128 mmol/L, potassium 5.6 mmol/L, bicarbonate 15 mmol/L, and albumin 30 g/L. Her admission was prolonged, complicated by hospital-acquired sepsis (lower respiratory tract, urinary tract, and infected leg ulcers), poor venous access and severe depression. She had recurrent hyperkalaemia and deteriorating renal function, from presumed Type 4 renal tubular acidosis and excessive fluid losses from leg ulcers. Her renal function recurrently deteriorated, despite conventional treatment methods. After 69 days, she was commenced on fludrocortisone 50 mcg/day. Her renal function and serum potassium stabilized and she was discharged with potassium 4.3 mmol/L, eGFR 42 ml/min, and bicarbonate 23 mmol/L. She has remained stable on this treatment, without requiring further hospital admission for over 6 months, with eGFR 40 ml/min, and potassium 5.5 mmol/L, and albumin 26 g/L. CONCLUSION: This woman was presumed to have Type 4 renal tubular acidosis and recurrent hyperkalaemia due to renal insufficiency, in the context of underlying diabetes and chronic kidney disease, which was poorly responsive to conventional management. There is limited evidence for using fludrocortisone in this setting. Our case suggests that fludrocortisone might offer a novel therapeutic strategy when conventional management is not working.


Assuntos
Acidose Tubular Renal/tratamento farmacológico , Anti-Inflamatórios/uso terapêutico , Fludrocortisona/uso terapêutico , Hiperpotassemia/prevenção & controle , Rim/efeitos dos fármacos , Acidose Tubular Renal/epidemiologia , Acidose Tubular Renal/etiologia , Acidose Tubular Renal/fisiopatologia , Comorbidade , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Humanos , Hiperpotassemia/epidemiologia , Hiperpotassemia/etiologia , Rim/imunologia , Rim/fisiopatologia , Falência Renal Crônica/epidemiologia , Falência Renal Crônica/imunologia , Falência Renal Crônica/fisiopatologia , Pessoa de Meia-Idade , Prevenção Secundária , Resultado do Tratamento
17.
Pediatr Nephrol ; 32(6): 987-996, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28188436

RESUMO

BACKGROUND: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H+-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. METHODS: This study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis. RESULTS: Of the 24 children included in the study, genetic diagnosis was confirmed in 19 patients, with six children having mutations in ATP6V1B1, ten in ATP6V0A4 and three in SLC4A1; molecular diagnosis was not available for five children. Five novel mutations were detected (2 in ATP6V1B1 and 3 in ATP6V0A4). Two-thirds of patients presented with features of proximal tubular dysfunction leading to an erroneous diagnosis of renal Fanconi syndrome. The proximal tubulopathy disappeared after resolution of acidosis, indicating the importance of following proximal tubular function to establish the correct diagnosis. Growth retardation with a height below -2 standard deviation score was found in ten patients at presentation, but persisted in only three of these children once established on alkali treatment. Sensorineural hearing loss was found in five of the six patients with an ATP6V1B1 mutation. Only one patient with an ATP6V0A4 mutation had sensorineural hearing loss during childhood. Nine children developed medullary cysts, but without apparent clinical consequences. Cyst development in this cohort was not correlated with age at therapy onset, molecular diagnosis, growth parameters or renal function. CONCLUSION: In general, the prognosis of dRTA is good in children treated with alkali.


Assuntos
Acidose Tubular Renal/epidemiologia , Acidose Tubular Renal/genética , Álcalis/uso terapêutico , Transtornos do Crescimento/epidemiologia , Perda Auditiva Neurossensorial/epidemiologia , Túbulos Renais Coletores/metabolismo , Acidose Tubular Renal/tratamento farmacológico , Proteína 1 de Troca de Ânion do Eritrócito/genética , Pré-Escolar , Estudos de Coortes , Comorbidade , Cistos/epidemiologia , Cistos/genética , Análise Mutacional de DNA , Feminino , Seguimentos , Testes Genéticos , Taxa de Filtração Glomerular , Transtornos do Crescimento/genética , Perda Auditiva Neurossensorial/genética , Humanos , Lactente , Recém-Nascido , Medula Renal/patologia , Túbulos Renais Coletores/citologia , Masculino , Mutação , ATPases Vacuolares Próton-Translocadoras/genética
20.
Ann Saudi Med ; 35(1): 69-71, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26142942

RESUMO

Renal tubular acidosis (RTA) is a disorder of renal acidification characterized by inability to acidify urine to pH < 5.5 despite the presence of severe systemic metabolic acidosis and hypokalemia. Hypokalemia leads to acute-onset paralysis and may be a presenting manifestation of RTA. Its association with various autoimmune disease has been reported previously in published reports, but has not been much emphasized. We, hereby, report a case of RTA that presented during the flare of rheumatoid arthritis (RA). A 42-year-old female, a known case of RA for 5 years, presented with persistent joint pain for 1 week and acute-onset quadriparesis for 3 days. Primary investigations revealed hypokalemia with metabolic acidosis. She was managed conservatively with potassium supplements and bicarbonate supplements along with steroids and disease-modifying anti-rheumatic drugs. Such a presentation of renal tubular acidosis in a patient during the flare of rheumatoid arthritis is distinctly rare and previously unreported in published studies.


Assuntos
Acidose Tubular Renal/complicações , Artrite Reumatoide/complicações , Quadriplegia/etiologia , Acidose Tubular Renal/tratamento farmacológico , Adulto , Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Feminino , Humanos , Hipopotassemia/complicações , Hipopotassemia/tratamento farmacológico , Potássio/uso terapêutico , Esteroides/uso terapêutico
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