A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants.

BACKGROUND: Nephrocalcinosis (NC) is characterized by an excessive accumulation of calcium deposits in the kidneys. In children, it is often incidentally discovered with an uncertain prognosis. CASE-DIAGNOSIS/TREATMENT: A 3-month-old girl suspected to have a milk protein allergy underwent an ultrasound that revealed increased echogenicity in the kidney pyramids suggestive of medullary NC. At the age of 18 months, imaging findings revealed not only hyperechogenicity in the medulla but also in the cortex. Over the course of a long follow-up, her kidneys maintained size within the upper limits but showed an increase by age 7. Genetic analysis identified PKHD1 variants, which required structural predictive tools to guide clinical diagnosis. Until the age of 7, her kidney function has remained intact; however, her prognosis is uncertain. CONCLUSIONS: NC in newborns is a rare condition, but its incidence is rising. Recurrent urinary infections or kidney stones may lead to kidney failure. A proactive approach in sporadic NC enables an early diagnosis to orientate clinical supervision and facilitates counseling to support family planning decisions.

Nephrocalcinosis can disappear in infants receiving early lumasiran therapy.

BACKGROUND: Lumasiran is the first RNA interference (RNAi) therapy of primary hyperoxaluria type 1 (PH1). Here, we report on the rapid improvement and even disappearance of nephrocalcinosis after early lumasiran therapy. CASE-DIAGNOSIS/TREATMENT: In patient 1, PH1 was suspected due to incidental discovery of nephrocalcinosis stage 3 in a 4-month-old boy. Bilateral nephrocalcinosis stage 3 was diagnosed in patient 2 at 22 months concomitantly to acute pyelonephritis. Urinary oxalate (UOx) and glycolate (UGly) were increased in both patients allowing to start lumasiran therapy before genetic confirmation. Nephrocalcinosis started to improve and disappeared after 27 months and 1 year of treatment in patients 1 and 2, respectively. CONCLUSION: These cases illustrate the efficacy of early lumasiran therapy in infants to improve and even normalize nephrocalcinosis. As proposed in the 2023 European guidelines, the interest of starting treatment quickly without waiting for genetic confirmation may have an impact on long-term outcomes.

Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is characterized by increased endogenous oxalate production and deposition as calcium oxalate crystals. The main manifestations are nephrocalcinosis/nephrolithiasis, causing impaired kidney function. We aimed to evaluate the clinical characteristics and overall outcomes of paediatric PH1 patients in Turkey. METHODS: This is a nationwide, multicentre, retrospective study evaluating all available paediatric PH1 patients from 15 different paediatric nephrology centres in Turkey. Detailed patient data was collected which included demographic, clinical and laboratory features. Patients were classified according to their age and characteristics at presentation: patients presenting in the first year of life with nephrocalcinosis/nephrolithiasis (infantile oxalosis, Group 1), cases with recurrent nephrolithiasis diagnosed during childhood (childhood-onset PH1, Group 2), and asymptomatic children diagnosed with family screening (Group 3). RESULTS: Forty-eight patients had a mutation consistent with PH1. The most common mutation was c.971_972delTG (25%). Infantile oxalosis patients had more advanced chronic kidney disease (CKD) or kidney failure necessitating dialysis (76.9% vs. 45.5%). These patients had much worse clinical course and mortality rates seemed to be higher (23.1% vs. 13.6%). Patients with fatal outcomes were the ones with significant comorbidities, especially with cardiovascular involvement. Patients in Group 3 were followed with better outcomes, with no kidney failure or mortality. CONCLUSION: PH1 is not an isolated kidney disease but a systemic disease. Family screening helps to preserve kidney function and prevent systemic complications. Despite all efforts made with traditional treatment methods including transplantation, our results show devastating outcomes or mortality.

Nephrocalcinosis in Neonates.

Nephrocalcinosis occurs in as many as 40% of preterm neonates. Many causes and contributors predispose neonates to develop nephrocalcinosis, including metabolic, genetic, and iatrogenic factors. Because nephrocalcinosis can be a manifestation of an underlying genetic disorder, neonates with nephrocalcinosis must undergo an evaluation to identify and address contributors, to prevent further renal calcium deposition that can potentially lead to renal dysfunction. In this article, we review the epidemiology, pathogenesis, diagnosis, and evaluation of nephrocalcinosis in neonates. We also summarize the natural history of nephrocalcinosis of prematurity as well as the management of this condition.

Hypertensive emergency due to a delayed dialysis modality transition in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis: a case report.

BACKGROUND: This case report presents a history of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). The patient was admitted to the hospital with hypertensive encephalopathy. FHHNC is a rare autosomal recessive disease caused by mutations in CLDN16 or CLDN19, resulting in insufficient magnesium and calcium kidney reabsorption. FHHNC manifestation starts in childhood, and over the years, its development leads to nephrocalcinosis and, consequently, chronic kidney disease (CKD), which is not slowed by routine administration of magnesium and thiazide diuretics. Ultimately, all FHHNC patients need kidney replacement therapy (KRT). CASE PRESENTATION: The patient was a 28-year-old male diagnosed with FHHNC and admitted to the emergency room due to hypertensive encephalopathy. The current situation was the patient's second hospitalization related to a hypertensive emergency caused by under-dialysis. Despite the signs of insufficient functioning of peritoneal dialysis (PD) (the primary chosen form of KRT), the patient refused the proposed conversion to hemodialysis (HD). Symptoms observed upon admission included disorientation, anxiety, and severe hypertension, reaching 213/123 mmHg. Due to his clinical condition, the patient was transferred to the intensive care unit (ICU), where the introduction of continuous veno-venous hemodiafiltration and hypotensive therapy stabilized blood pressure. Within the next few days, his state improved, followed by discharge from ICU. Eventually, the patient agreed to transition from PD to in-center HD. At the time, he was qualified for kidney transplantation, waiting for a compatible donation. CKD and dialysis are factors that significantly affect a patient's quality of life, especially in young patients with congenital diseases like FHHNC. CONCLUSIONS: For the aforementioned reasons, appropriate education and psychological support should be ensured to avoid the harmful effects of therapy non-compliance. Graphical Abstract: https://www.europeanreview.org/wp/wp-content/uploads/Graphical-abstract-1.pdf.

Riñón en esponja y litiasis renal / Sponge kidney and renal lithiasis

Introducción: El riñón en esponja es una malformación renal, de los túbulos colectores, que se suele asociar a nefrocalcinosis o acidosis tubular distal. La asociación con la litiasis renal se observa entre un 4-20%. Objetivo: El objetivo de nuestro trabajo fue describir factores de riesgo bioquímicos para litiasis renales, en pacientes con riñón en esponja. Material y métodos: Se realizó un estudio retrospectivo, observacional de corte, entre los años 2000 y 2017 en donde se estudiaron 37 pacientes con riñón en esponja y litiasis renal (26 mujeres y 11 hombres) de 37.3 ± 13.2 años. El diagnóstico de riñón en esponja se hizo mediante urograma excretor. Resultados: Fue observada nefrocalcinosis en el 95%. El diagnóstico bioquímico más frecuente fue la hipercalciuria idiopática que como única y asociada alteración se observó en el 59.4%. La hiperuricosuria fue el segundo diagnóstico encontrado en el 32.4% (única y asociada) seguido por la, hipocitraturia, hipomagnesuria y el pHu persistentemente ácido. En los hombres llamó la atención que un 46.2% no presentaron alteración bioquímica. Conclusiones: En conclusión se destaca la asociación relativamente frecuente de riñón en esponja y litiasis renal. La hipercalciuria idiopática fue la alteración metabólica más frecuente como causa de litogénesis, seguida por la hiperuricosuria, similar a lo descripto en la literatura, aunque en menor proporción. Otras alteraciones, como la hipocitraturia, hipomagnesuria y pHu persistentemente ácido también deben ser consideradas en el estudio de estos pacientes.

Introduction: Sponge kidney is a renal malformation of the collecting tubules, which is usually associated with nephrocalcinosis or distal tubular acidosis. The association with renal lithiasis is observed between 4-20%. Objective: The aim of our work was to describe the biochemical risk factors of renal lithiasis in patients with sponge kidney. Methods: A retrospective, observational, cross-sectional study was conducted between 2000 and 2017, in which 37 patients with sponge kidney and renal lithiasis (26 women and 11 men), aged 37.3 ± 13.2 years, were studied. The diagnosis of sponge kidney was made by excretory urography. Results: Nephrocalcinosis was observed in 95% of patients. The most frequent biochemical diagnosis was idiopathic hypercalciuria, which was observed, as a single and associated alteration, in 59.4% of cases. Hyperuricosuria was the second diagnosis found in 32.4% (single and associated) followed by hypocitraturia, hypomagnesuria and persistently acid pHu. Surprisingly, 46.2% of men presented no biochemical alteration. Conclusions: Our findings highlight the relatively frequent association of sponge kidney and renal lithiasis. Idiopathic hypercalciuria was the most common metabolic alteration as the cause of lithogenesis, followed by hyperuricosuria, similar to that described in the literature, but to a lesser extent. Other alterations, such as hypocitraturia, hypomagnesuria and persistently acid pHu, should also be considered in the study of these patients.

Síndrome de Bartter: una tubulopatía infrecuente de inicio antenatal / Bartter syndrome: an infrequent tubulopathy of prenatal onset

INTRODUCCIÓN: Síndrome de Bartter (SB) es una tubulopatía hereditaria, poco frecuente que tiene dos formas de presentación, forma grave de inicio antenatal (Bartter neonatal) y forma de aparición más tardía (Bartter clásico). En su forma antenatal se manifiesta con poliuria fetal, polihidroamnios de inicio precoz y severo, parto prematuro secundario y restricción de crecimiento intrauterino. La etapa postnatal presenta episodios recurrentes de deshidratación y desbalance electrolítico que pue den comprometer la sobrevida del paciente. OBJETIVO: Comunicar un caso de SB neonatal y presentar una revisión de la literatura en esta patología. CASO CLÍNICO: Prematuro 35 semanas, con antecedente de severo polihidroamnios diagnosticado a las 27 semanas de gestación, sin causa aparente. Desde su nacimiento evolucionó con poliuria y alcalosis metabólica hipokalémica haciendo plantear, en primera semana de vida, diagnóstico de Síndrome de Bartter neonatal. El laboratorio confirmó per didas urinarias de electrólitos. Fue manejado con balance hídrico estricto y suplementación de sodio y potasio, logrando estabilizar peso y desbalance electrolítico. Se mantiene en control nefrológico, con suplementación de gluconato de potasio y cloruro de sodio. Se agregó ibuprofeno al cuarto mes como parte del tratamiento. Al séptimo mes de vida, ecografía renal demostró nefrocalcinosis. Al año de vida se evidenció hipoacusia sensorioneural profunda requiriendo implante coclear. CONCLUSIÓN: Presencia de polihidroamnios severo de aparición temprana sin causa identificada debe hacer sospechar SB, que aun siendo infrecuente determina graves alteraciones hidroelectrolíticas y debe ser iniciado su tratamiento precozmente.

INTRODUCTION: Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later on set form during the first years of life (classic Bartter). In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. In the postnatal stage, it presents recurrent episodes of dehydration and electrolyte im balance that can compromise the survival of the patient. OBJECTIVE: To report a clinical case of neo natal BS and a review of the literature. CLINICAL CASE: Premature newborn of 35 weeks of gestation with history of severe polyhydramnios diagnosed at 27 weeks of gestation, without apparent cause. From birth, the patient presented polyuria and hypokalemic metabolic alkalosis making a diagnosis of Neonatal Bartter Syndrome in the first week of life. Laboratory tests confirmed urinary electrolyte losses. The patient was treated with strict water balance and sodium and potassium supplementa tion, achieving weight and electrolyte imbalance stabilization. The patient remains in control in the nephrology unit, with potassium gluconate and sodium chloride supplementation. At the fourth month, ibuprofen was added as part of treatment. At the seventh month of life, renal ultrasound showed nephrocalcinosis. At one year of life, profound sensorineural hearing loss was observed re quiring a cochlear implant. CONCLUSION: The presence of severe polyhydramnios of early onset with no identified cause should lead to suspicion of neonatal BS which even when infrequent determines severe hydroelectrolytic alterations and should be treated early.

Nefrocalcinosis como manifestación de la acidosis tubular renal distal / Renal tubular distal acidosis: nephrocalcinosis as initial diagnosis

Se presenta el caso de una mujer afecta de Lupus Eritematoso Sistémico (LES) y acidosis tubular renal distal (ATRD) que en el embarazo presenta una exacerbacióndel LES junto con un cuadro de cólico nefrítico con expulsión espontánea de cálculos. Las pruebas radiológicas muestran calcificaciones difusas en ambos parénquimas renales lo cual sugiere, en el contexto de una ATRD, una nefrocalcinosis. Junto con la estabilización del LES y un tratamiento médico dirigido a corregir las alteraciones metabólicas se alcanza una estabilidad radiológica y clínica de la enfermedad litiásica

We present a case of a woman affected by Systemic Lupus Erythematosus (SLE) and distal renal tubular acidosis (DRTA) that during pregnancy presented an exacerbation of SLE together with a renal colic with spontaneous stone passage. Radiological exam revealed diffuse calcifications in both kidneys which suggests, in a context of DRTA, a nephrocalcinosis. With the stabilization of SLE and medical treatment directed to correct metabolic alterations we achieved radiological and clinical stability of lithiasic disease

Estancamiento ponderal, vómitos y diarrea. Algo más que patología digestiva / Failure to thrive, vomiting and diarrhea. More than gastrointestinal diseases

Las acidosis tubulares renales son un grupo de trastornos que cursan con acidosis metabólica, en las que la función glomerular permanece conservada y es la función tubular la que está alterada. Son producidas por un defecto en la reabsorción tubular renal de bicarbonato y/o en la excreción urinaria de ion hidrógeno. Su etiología es diversa. Se debe pensar en ellas ante un lactante con escasa ganancia ponderal, vómitos, poliuria y/o deshidratación. El pronóstico es variable, según corresponda a formas primarias o secundarias y a la rapidez con la que se instaure el tratamiento. Presentamos un paciente afecto de acidosis tubular distal primaria diagnosticado a los tres meses de edad, con clínica de estancamiento ponderal (AU)

Renal tubular acidosis is a group of disorders with metabolic acidosis, in which tubular function is impaired while glomerular function is preserved. They are caused by an impairment in the bicarbonate’s renal tubular reabsorption and/or in the urine excretion of hydrogen. The etiology of tubular acidosis is diverse. We should think of it in an infant with vomiting, polyuria, dehydration and poor weight gain. The prognosis is variable, it depends on whether it is a primary or a secondary form and on how prompt the treatment is instituted. We present a patient with primary distal tubular acidosis diagnosed at 3 months of age with poor weight gain (AU)

Nefrocalcinose associada provavelmente com abuso de furosemida: relato de caso e revisão de literatura / Nephrocalcinosis probably associated with furosemide abuse: case report and review

Introdução: Nefrocalcinose tem sido descrita em neonatos e crianças que fazem uso de furosemida em altas doses por longo período de tempo. Relatamos aqui um caso de nefrocalcinose em uma mulher adulta após o uso de furosemida por dez anos. Relato de caso: Paciente de 27 anos, sexo feminino, admitida com queixa de edema, tendo feito uso de furosemida 40 a 120mg por dez anos. Ultra-sonografia diagnosticou nefrocalcinose, mostrando aumento difuso da ecogenicidade das pirâmides renais. Tratada com suspensão do furosemida. Evolução mostrou regressão do edema e nefrocalcinose persistente. Conclusão: Nefrocalcinose medular associada com abuso de furosemida por tempo prolongado em adulto é relatada e feita revisão de literatura sobre oassunto.

Introduction: Nephrocalcinosis has been described in neonates and infants who used furosemide in high doses for extended periods of time. We report here a case of nephrocalcinosis in an adult female after taking furosemide for ten years. Case report: A 27 year-old, female, admitted for edema took 40to 120 mg of furosemide per day for ten years. Nephrocalcinosis was diagnosed by ultrasonography, which showed a diffuse increase in echogenicity pyramids. Treatment was a furosemide suspension. Evolution showed regression of edema and persistent nephrocalcinosis. Conclusion: A case of medullary nephrocalcinosis associated with long-term furosemide abuse in adults is described and a review of the literature is presented.

Nefrocalcinosis en sujeto con acidosis tubular renal distal completa: a propósito de un caso / Nephrocalcinosis in patient with tubular renal acidosis distal: A case report

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Nefrocalcinosis en recién nacidos prematuros / nephrocalcinosis in preterm infants

El objetivo de este estudio fue conocer la incidencia de nefrocalcinosis en recién nacidos de pretérmino y determinar la utilidad de la relación calciuria/creatininuria como indicador diagnóstico predictivo.Un total de 124 recién nacidos con edad gestacional igual o menor a 32 semanas fueron agrupados en dos categorías.Un grupo de estudio de 53 pacientes con factores de riesgo conocidos para el desarrollo de nefrocalcinosis(oxigenoterapia,uso de furosemida y nutrición parenteral prolongadas)y un grupo control de 71 pacientes sin factores de riesgo.Ambos fueron estudiados por el índice de calciuria/creatinuria presente al menos en dos muestras aisladas de orina.Se realizó estudio ecográfico entre los 2 y los 3 meses de vida.El 15,3 por ciento de los pacientes presentó nefrocalcinosis.La diferencia entre ambos grupos fue estadísticamente significativa(p<0,01)La presencia de hipercalciuria se relaciona con el diagnóstico de nefrocalcinosis,con un valor predictivo positivo de 38 por ciento y un valor predictivo negativo de 100 por ciento.La incidencia de nefrocalcinosis fue comparable con series clínicas publicadas.Parece adecuado el estudio de pacientes con factores de riesgo por medio de calciuria/creatinuria realizando seguimiento ecográfico de pacientes con hipercalciuria

Nefrocalcinosis / Nephrocalcinosis

Se define como nefrocalcinosis a los depósitos de calcio en el parénquima renal pesquisados por ecografía, radiografía o ambos, reservándose calcificaciones para el depósito microscópico. Esta afección es extremadamente rara. Se presentan 6 pacientes con nefrocalcinosis demostrada por eco y radiología en 4 y 2 por ecografía, coincidiendo estos últimos con los asociados a hipercalcemia. Se presentan 3 pacientes con ATR tipo I, uno por ectasia canalicular precaliciaria o enfermedad de Cacchi-Ricci y dos intoxicaciones por vitamina D. El tratamiento debe estar dirigido a la etiología ya se ésta ATR o hipercalcemia. La enfermedad de Cacchi-Ricci no tiene tratamiento. El pronóstico estaría condicionado por la enfermedad base. Aparentemente la nefrocalcinosis radiológica es irreversible y puede progresar a la insuficiencia renal terminal, mientras que el hallazgo ecográfico puede remitir en los pacientes con intoxicación por vitamina D

Nefrocalcinosis: conceptos básicos, etiología y tratamiento médico. Revisión desde un enfoque urológico / Nefrocalcinosis: basic concepts, etiology and medical treatment. Review from an urological focus

Presentamos el caso de un paciente varón de 46 años de edad, quien inició su historia litiásica a los 26 años con cólicos nefríticos expulsivos, tratados habitualmente con analgésicos comunes y antiinflamatorios. El estudio cristalográfico reveló cristales de oxalato de calcio dihidratado y fosfato de calcio apatílico. La urografía intravenosa demostró la presencia de calcificaciones medulares bilaterales múltiples, con funcionalismo conservado y ausencia de uropatía obstructiva. Se asumió el caso como nefrocalcionsis medular bilateral, probablemente secundaria a hipercalciuria y/o acidosis tubular distal tipo I. El paciente ha sido medicado con citrato potásico hasta la actualidad. Se exponen a continuación las siguientes causas de nefrocalcinosis, haciendo mención especial de las principales: Hiperparatiroidismo primario; Hipercalciuria idiopática; Acidosis tubular distal tipo I y Enfermedad de Cacchi-Ricci (enpongiosis Medular Renal) (AU)

We present the case of a 46 year old male patient, who initiated his lithiasic history at the age of 26 with expulsive renal colic’s, usually treated with common analgesics and anti-inflammatory. The crystallographic study revealed calcium oxalate dihydratte and calcium phosphate apatite crystals. The Intravenous Pyelogram showed the presence of multiple bilateral medullary calcifications, with preserved functionalism and absence of obstructive uropathy. The case was assumed as bilateral nephoraclcinosis, due probably to hypercalciuria and (or distal renal tubular acidosis (type 1). The patient has been medicated with potassium citrate until the present time. The following causes of nefrocalcinosis are exposed next, doing special mention of the main ones: Primary Hiperparatiroidism; Idiopatic Hipercalciuria; Distal Renal tubular Acidosis (type I) and Cacchi-Ricci (Medullary Sponge Kidney) disease

Nefrocalcinosis en recién nacidos prematuros / Nephrocalcinosis in preterm infants

El objetivo de este estudio es conocer la incidencia de nefrocalcinosis en recién nacidos de pretérmino y determinar la utilidad de la relación calciuria/creatininuria como predictor diagnóstico. Un total de 124 recién nacidos con edad gestacional igual o menor a 32 semanas fueron agrupados en dos categorías. Un grupo de estudio de 53 pacientes con factores de riesgo conocidos para el desarrollo de nefrocalcinosis (oxigenoterapia, uso de furosemida y nutrición parenteral prolongadas) y un grupo control de 71 pacientes sin factores de riesgo. Ambos fueron estudiados por índice calciuria/creatininuria (muestras aisladas de orina los días 15, 21 y 30 de vida). Se definió hipercalciuria como un valor igual o mayor a 0,5 de índice calciuria/creatininuria presente al menos en dos muestras aisladas de orina. Se realizó estudio ecográfico entre los dos y tres meses de vida. El 15,3 por ciento de los pacintes presentó nefrocalcinosis. El grupo con factores de riesgo presenta 35,8 por ciento de nefrocalcinosis y los valores de calciuria/creatininuria fueron 0,87, 0,96 y 1,04. En el grupo control de valores de calciuria/creatininuria fueron 0,37, 0,30 y 0,29 no presentando casos de nefrocalcinosis. La diferencia entre ambos grupos es estadísticamente significativa (p<0,01). La presencia de hipercalciuria se relaciona con el diagnóstico de nefrocalcinosis, presentando valor predictivo positivo de 38 por ciento y valor predictivo negativo de 100 por ciento. La incidencia de nefrocalcinosis es comparable con series clínicas publicadas. Parece adecuado el estudio de pacientes con factores de riesgo por medio de calciuria/creatininuria realizando seguimiento ecográfico de pacientes con hipercalciuria

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.

Nefrocalsinosis en niños / Nefrocalcinosis in children

Con el advenimiento de estudios de imagen altamente sensibles, como el ultrasonido y la tomografía computada, la nefrocalcinosis (NC) se diagnostica más frecuentemente. Mientras que en muchos casos la NC puede manifestarse de forma leve y reversible, en otros casos puede ser progresiva, causando inicialmente daño tubular y posteriormente daño glomerular. Por lo tanto, el diagnóstico temprano e intervención apropiada son de crucial importancia. Esta revisión abarcará aspectos de la NC en niños, incluyendo etiología, patogénesis, prevención y tratamiento

Nefrocalsinosis en niños / Nefrocalcinosis in children

Con el advenimiento de estudios de imagen altamente sensibles, como el ultrasonido y la tomografía computada, la nefrocalcinosis (NC) se diagnostica más frecuentemente. Mientras que en muchos casos la NC puede manifestarse de forma leve y reversible, en otros casos puede ser progresiva, causando inicialmente daño tubular y posteriormente daño glomerular. Por lo tanto, el diagnóstico temprano e intervención apropiada son de crucial importancia. Esta revisión abarcará aspectos de la NC en niños, incluyendo etiología, patogénesis, prevención y tratamiento(AU)