Oral manifestations of renal tubular acidosis associated with secondary rickets: case report / Manifestações bucais da acidose tubular renal associada ao raquitismo secundário: relato de caso

ABSTRACT This report describes the oral manifestations of renal tubular acidosis (RTA) associated with secondary rickets and discusses the biological plausibility of these findings. The characteristic electrolyte changes during RTA or genetic mutations that trigger RTA may be responsible for impaired amelogenesis, dental malocclusion, impacted teeth, and absent lamina dura. This report reinforces the possibility of an association between RTA and the oral manifestations described.

RESUMO Este relato de caso descreve as manifestações bucais da acidose tubular renal (ATR) associada ao raquitismo secundário e discute a plausibilidade biológica desses achados. As alterações eletrolíticas características da ATR ou as mutações genéticas que a desencadeiam podem ser responsáveis pela amelogênese imperfeita, maloclusão dentária, dentes impactados e ausência de lâmina dura. Este relato reforça a possibilidade de uma associação entre ATR e as manifestações bucais descritas.

A physiology-based approach to a patient with hyperkalemic renal tubular acidosis / Abordagem diagnóstica de um paciente com acidose tubular renal hipercalêmica

ABSTRACT Hyperkalemic renal tubular acidosis is a non-anion gap metabolic acidosis that invariably indicates an abnormality in potassium, ammonium, and hydrogen ion secretion. In clinical practice, it is usually attributed to real or apparent hypoaldosteronism caused by diseases or drug toxicity. We describe a 54-year-old liver transplant patient that was admitted with flaccid muscle weakness associated with plasma potassium level of 9.25 mEq/L. Additional investigation revealed type 4 renal tubular acidosis and marked hypomagnesemia with high fractional excretion of magnesium. Relevant past medical history included a recent diagnosis of Paracoccidioidomycosis, a systemic fungal infection that is endemic in some parts of South America, and his outpatient medications contained trimethoprim-sulfamethoxazole, tacrolimus, and propranolol. In the present acid-base and electrolyte case study, we discuss a clinical approach for the diagnosis of hyperkalemic renal tubular acidosis and review the pathophysiology of this disorder.

RESUMO A acidose tubular renal hipercalêmica é uma acidose metabólica de ânion gap normal que invariavelmente indica anormalidade na secreção de íons potássio, amônio e hidrogênio. Na prática clínica, está geralmente atribuída a um estado de hipoaldosteronismo real ou aparente, causado por doenças ou toxicidade por drogas. Descrevemos um paciente de 54 anos, transplantado hepático, que foi admitido com fraqueza muscular associada à hipercalemia, potássio plasmático de 9,25 mEq/L. A investigação adicional revelou acidose tubular renal tipo 4 e importante hipomagnesemia com elevada fração de excreção de magnésio. A história patológica pregressa incluía um diagnóstico recente de Paracoccidioidomicose - uma infecção sistêmica fúngica endêmica que ocorre em algumas partes da América do Sul -, e as medicações de uso habitual continham sulfametoxazol-trimetoprim, tacrolimus e propranolol. No presente relato de caso, discutiremos uma abordagem clínico-laboratorial para o diagnóstico da acidose tubular renal hipercalêmica, assim como da hipomagnesemia, revisando a fisiopatologia desses transtornos.

Type 1 renal tubular acidosis with sensorineural deafness.

We report a case of Type 1 Renal Tubular Acidosis (RTA) in association with sensorineural deafness. Inherited Type 1 RTA is usually autosomal dominant, though there is a rarer recessive form associated with nerve deafness. Simple alkali replacement can correct the systemic metabolic defect, but does not appear to ameliorate hearing loss.

Acidose tubular renal em pediatria: [revisão] / Renal tubular acidosis in pediatrics: [review]

O termo Acidose Tubular Renal (ATR) engloba diversas afecções caracterizadas por acidose metabólica secundária a um defeito na reabsorção tubular renal de HCO 3- e/ou na excreção urinária de H+, enquanto a função glomerular é nada ou minimamente afetada. Todas as formas de ATR apresentamacidose metabólica hiperclorêmica, com intervalo aniônico normal. São doenças crônicas com impacto significativo na qualidade de vida dos pacientesquando não tratadas adequadamente, podendo evoluir com déficit do crescimento, osteoporose, raquitismo, nefrolitíase e até perda da função renal.Podem ser primárias, decorrentes de defeitos genéticos nos mecanismos de transporte dos túbulos renais, ou secundárias a doenças sistêmicas ou aoefeito adverso de medicamentos. Neste artigo, é feita uma breve revisão da homeostase ácido-básica pelo rim, discutindo-se, a seguir, aspectos dafisiopatologia, diagnóstico e abordagem das acidoses tubulares renais em pediatria.

The term Renal Tubular Acidosis (RTA) defines many disorders characterized by metabolic acidosis, secondary to defects in renal tubular reabsorption ofHCO3 - and/or in urinary excretion of H+, while glomerular function is little or not affected. All forms of RTA present hyperchloremic metabolic acidosis, witha normal anion gap. When not adequately treated, these chronic diseases can have a significant impact on the quality of life of affected patients, and can evolve into growth failure, osteoporosis, rickets, nephrolithiasis and even renal insufficiency. These disorders can be primary, originating from genetic defectson tubular transport mechanisms, or can be secondary to systemic diseases and to adverse drug reactions. In this article, the mechanisms of acid-baseregulation by the kidney are briefly reviewed, followed by a presentation of the latest evidence regarding physiopathology, diagnosis and management ofrenal tubular acidosis in pediatric patients.

Aetiological, clinical and metabolic profile of hypokalaemic periodic paralysis in adults: a single-centre experience.

BACKGROUND: Hypokalaemic periodic paralysis constitutes a heterogeneous group of disorders that present with acute muscular weakness. In this analysis, we discuss the aetiological factors that appear to be more common in the Indian population. METHODS: From 1995 to 2001, 31 patients presented with periodic paralysis (mean age 34.5 years, range 11-68 years). Of the 31 patients, 19 were men. The clinical and laboratory data of these patients were analysed. Patients were investigated for possible secondary causes of hypokalaemla. RESULTS: There were 13 patients (42%) with renal tubular acidosis, 13 with primary hyperaldosteronism (42%), 2 each with thyrotoxic periodic paralysis and sporadic periodic paralysis, and I with Gitelman syndrome. Of the 13 patients with renal tubular acidosis, 10 had proximal and 3 distal renal tubular acidosis. Three of these patients with renal tubular acidosis had Sjogren syndrome. The patients diagnosed to have renal tubular acidosis had significantly lower serum bicarbonate (18.7 [14.6] v. 29.6 [5.0] mEq/L; p < 0.05) and higher levels of chloride (107.5 [6.0] v. 99.5 [3.4] mEq/L; p < 0.05) compared with those who had primary hyperaldosteronism, although the potassium values were similar (2.4 [0.65] v. 2.26 [0.48] mEq/L; p = 0.43). All patients with primary hyperaldosteronism had hypertension at presentation and were proven to have adrenal adenomas. CONCLUSION: A significant number of patients in this study had secondary and potentially reversible causes of hypokalaemic periodic paralysis. The common causes were renal tubular acidosis and primary hyperaldosteronism. A detailed work-up for secondary causes should be undertaken in Indian patients with hypokalaemic periodic paralysis.

Long-term outcome in children with primary distal renal tubular acidosis.

OBJECTIVE: To evaluate complications in adequately treated children with distal renal tubular acidosis (RTA) and to identify factors influencing their development. DESIGN: Records of patients with primary distal RTA followed for 2 or more years at this hospital were reviewed. Case records were examined for age at onset of symptoms and at initiation of treatment, treatment details, follow-up and complications. Height, weight and growth velocity were expressed as standard deviation score (SDS) during different periods of follow-up. Regression analysis was performed to evaluate factors influencing increase in height and weight SDS. P value of less than 0.05 was considered significant. RESULTS: Of 18 patients (eleven boys), the diagnosis was established at the median (range) age of 6 yr (1.5-13 yr). These patients were followed up for a median (range) period of 4 yr (2-18.5 yr). Short stature (height SDS <-2) was noted in all patients at the time of diagnosis with median (range) height SDS of -5.2(-7.5 - -0.4). All patients had failure to thrive with median (range) weight SDS of -3(-5.7 - -1.5). Height SDS increased by median (range) of 2 (1.2-5.5) to become -2.7(-4.8 - -1.1) at last follow-up. Weight SDS increased by median (range) of 0.9 (-0.6 - 2.8) to become -2.4 (-4 - -0.5). Median (range) growth velocity SDS decreased from 3 (1-16) during first year of treatment to 1(-0.3 - 7) at four years with an increase in mean height SDS by 1.3 during the first two years of treatment. Height SDS at last follow-up was not influenced by the age at initiation of treatment, follow-up duration, initial height SDS or severity of acidosis at diagnosis. Increase in height SDS correlated negatively with base excess and height SDS at diagnosis, and positively with follow-up duration on univariate analyses. Initial height SDS was the only factor that influenced increase in height SDS on multivariate analyses. Increase in weight SDS was negatively correlated with base excess and initial weight SDS with significant association with initial weight SDS, on multivariate analyses. All patients had rickets at the time of diagnosis with pathological fractures in four. Rickets resolved without treatment with vitamin D in seventeen patients after a median (range) period of 4 mo (1-12 mo). Eight patients (44.4%) had nephrocalcinosis at diagnosis. Twenty-four hour urine calcium excretion was higher in those with nephrocalcinosis (p = 0.01). Creatinine clearance remained normal in all except one who progressed to renal failure. CONCLUSION: There is a need for early diagnosis, appropriate treatment and regular follow-up of patients with distal RTA for improving outcome.

Hypokalemic paralysis in pregnancy.

Hypokalemic paralysis is an uncommon entity with varied etiology. Renal tubular acidosis is an unusual cause of this disorder. Its occurrence with pregnancy is rare. We report such a case and mention the implications of the association and review relevant literature breifly.

Lipomatosis múltiples simétricas / Multiple symmetric lipomatosis

Antecedentes: Los lipomas cervicales solitarios no requieren cirugía, salvo que por su volumen produzcan deformidades o dificultades mecánicas. Con las lipomatosis múltiples simétricas existe la controversia entre quienes prefieren la cirugía en aras de una mejor calidad de vida y quienes tratan de evitarla, basados en la incidencia de recurrencias. Objetivo: Analizar los aspectos sobresalientes de la enfermedad y los resultados alcanzados con la conducta adoptada. Lugar de aplicación: Hospital de Agudos y Hospital Oncológico, ambos de atención terciaria. Diseño: Retrospectivo no randomizado. Población: Se analizan 11 enfermos masculinos con una edad media de 51,6 años (44-63). La distribución era generalizada y comprensiva en el 54,5 por ciento. El hábito alcohólico se registró en el 100 por ciento. Métodos: En todos se practicó cirugía radical de los lipomas dominantes o que producían sintomatología comprensiva. En el 72,7 por ciento la resección cervical fue en un tiempo. Resultados: Se produjeron 3 complicaciones menores que se resolvieron sin nuevas cirugía. Sólo 1 (9 por ciento) recidivó. Al cierre de la observación, 8 enfermos se hallan vivos y sin recurrencias. Conclusiones: La cirugía radical es segura y exenta de riesgos. Las recurrencias se relacionan con el grado de meticulosidad de la cirugía

Un caso de Síndrome de Sjõgren primario complicado con acidosis tubular renal tipo 1 / Sjõgren syndrome associated with renal tubular acidosis type I

Primary Sjõgren's Syndrome complicated with a renal tubular acidosis type 1 and hypocalcemic paralysis, as the principal clinical manifestation, is uncommon. Although the initial manifestations of the nephropathy are not well understood, it is believed that the invasion of mononuclear cells and the high level of circulating antibodies, play an important role in the pathogenesis of the disease. We present a patient with hypocalcemic paralysis as an initial manifestation of a latent Sjõgren's disease. The glandular biopsy was normal, suggesting a mayor participation of an immunological humoral factor in the renal lesion.

Acidosis tubular renal distal y litiasis renal en tres casos de síndrome de Sjögren primario / Distal renal tubular acidosis and renal lithiasis in 3 cases of primary Sjögren's syndrome

Tubulo interstitial nephritis, the main manifestation of renal involvement in Sjögren syndrome, may lead to a tubular dysfunction that is usually subclinical. We report 3 women, aged 32, 35 and 35 years old, with a primary Sjögren's syndrome and symptomatic type I or distal tubular acidosis. Two patients had nephrolithiasis and one a nephrocalcinosis. Two had a basal hyperchloremic metabolic acidosis. The ammonium chloride acidification test was abnormal in all, demonstrating a distal tubular defect. None had proximal tubular dysfunction. All had an urinary pH over 6.5 and hypocitraturia and none had hypercalciuria. Renal calculi were composed of calcium oxalate and calcium phosphate in 2 patients and calcium phosphate and ammonium phosphate in the other. All women had positive antinuclear antibodies with mottled pattern, 2 had anti Ro antibodies and positive rheumatoid factor and 1 had hypergammaglobulinemia. None had anti La antibodies, crioglobulinemia or monoclonal proteins

Trastornos de los mecanismos renales de acidificacion en pacientes osteoporóticos / Renal acidification mechanism disorders in patients with osteoporosis

Se apresentaron 8 pacientes (6 mujeres y 2 varones de entre 40 y 67 años) con osteoporosis probablemente secundaria a, o agravada por, defectos tubulares renales. Três de las mujeres eran premenopáusicas; las restantes tenían 9,20 y 22 años de postmenopausia y 2 de ellas recibían terapia de reemplazo hormonal. Dos pacientes tenían nefrolitiasis (un varón con cálculos fosfocálcicos recurrentes y coraliforme izquierdo actual, y una mujer con nefrocalcionosis por riñon en esponja e hipercalciuria). En los restantes enfermos, la sospecha clínica se fundó en: a) Fractura de cadera a los 44 años en mujer premenopáusica sin factores de riesgo aparentes; b) múltiples aplastamientos vertebrales en varón de 45 años sin hipogonadismo ni otros factores presiponentes; c) falta de respuesta favorable a regímines terapéuticos anti-osteoporóticos bien cumplidos en 3 mujeres. Se determinó el nível de bicarbonato sérico en todos los pacientes y se practicó además una prueba de acidificación urinaria aguda con CINH4 o con furosemida oral. Tres pacientes tenían un defecto proximal, cuatro un defecto distal, y uno mixto. Las densidades minerales óseas expresadas en puntaje Z(x ñ e.s) fueron, en columna lumbar, -1,75 ñ 0,08 (n=8), y en cuello femoral -1,57 ñ 0,09 (n=4). Luego de un año de terapia con álcali por vía oral 5 enfermos tuvieron incrementos del calcio esquelético total que oscilaron entre 3 y 10 por ciento. Se concluye que seria conveniente incorporar el bicarbonato sérico a la bateía de pruebas de laboratorio en la evaluación inicial de pacientes osteopénicos, y que deberia sospecharse acidosis tubular renal en pacientes nefrolitiásicos osteopénicos, tengan o no hipercalciuria, y en enfermos osteoporóticos que no respondan a tratamientos probadamente efectivos

Acidose tubular renal distal manifestando-se com rabdomiólise / Distal renal tubular acidosis manifesting with rhabdomyolysis

A hipocalemia severa é causa incomum de rabdomiólise. Descreve-se ocaso de uma paciente de 28 anos com acidose tubular renal distal, que desenvolveu hipocalemia severa com consequente rabdomiólise. O estudo histológico do músculo evidenciou áreas focais de necrose muscular predominando em fibras do tipo II, com discreta reaçäo macrofágica. A melhota clínica e laboratorial apresentada pela paciente ocorreu após a normalizaçäo do potássio sérico, tendo sido fundamental, neste caso, a correçäo da acidose metabólica

Doença de basedow graves associada à acidose tubular renal e paralisia periódica tireotóxica: relato de um caso e revisäo da literatura / Graves' basedow disease associated acidosis renal tubular and thyrotoxic periodic paralysis: report of a case and review of the literature

Doenças tireoidianas autoimunes (DTA) tem sido associadas esporadicamente à acidose tubular renal tipo 1 (ART-1). Apresentamos o segundo caso descrito na literatura, de nosso conhecimento, de doenças de Basedow-Graves associada à ATR e à paralisia periódica tiretóxica (PPT). Os níveis de pH sanguíneo e de eletrólitos nao se normalizaram com a correçao da disfunçao tireodiana. A paralisia revertou com a administraçao de grandes quantidades de potássio (300-445 mEq/dia) e a acidose com ingestao de bicarbonato (15g/24h). Nefrocalcinose bilateral estava presente com hipercalciúria (310-603 mg/24 h) e diabetes insípidus nefrogênico (Osmolaridade urinárias= 347 mOsm após DDAVP). Aventa-se um mecanismo autoimune na gênese da ATR-1à semelhança do que ocorre na doença tireodiana associada. (Arq Bras Endocrinol Metab 1994; 38/1:35-38).