ABSTRACT
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.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Infant , Adult , Bartter Syndrome/diagnosis , Polyhydramnios/diagnosis , Bartter Syndrome/physiopathology , Bartter Syndrome/therapy , Ibuprofen/administration & dosage , Polyhydramnios/etiology , Hearing Loss, Sensorineural/surgery , Hearing Loss, Sensorineural/diagnosis , Nephrocalcinosis/diagnosis , Nephrocalcinosis/etiologyABSTRACT
La enfermedad de Dent es una tubulopatía recesiva ligada al cromosoma X caracterizada por proteinuria de bajo peso molecular (bpm), hipercalciuria, nefrocalcinosis o nefrolitiasis, disfunción tubular proximal e insuficiencia renal en la adultez. Las mujeres son portadoras y, en general, padecen una forma leve de la enfermedad. La progresión hacia la insuficiencia renal en estadio terminal se da entre los 30 y los 50 años de edad en el 30-80% de los varones afectados. A falta de un tratamiento dirigido al defecto molecular, en la actualidad, los pacientes con enfermedad de Dent reciben tratamientos complementarios orientados a prevenir la nefrolitiasis y la nefrocalcinosis. El caso que presentamos es el de un niño de 11 años con nefrocalcinosis y nefrolitiasis, en quien se detectó una nueva mutación en el gen CLCN5.
Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis caused by a new mutation at CLCN5 gene.
Subject(s)
Humans , Male , Child , Chloride Channels/genetics , Nephrolithiasis/etiology , Dent Disease/genetics , Nephrocalcinosis/etiology , Nephrolithiasis/genetics , Dent Disease/physiopathology , Mutation , Nephrocalcinosis/geneticsABSTRACT
El Síndrome Amelogénesis Imperfecta-Nefrocalcinosis es una rara enfermedad caracterizada por presentar Amelogénesis Imperfecta (AI) tipo hipoplásico en su mayoría asociado a una enfermedad renal llamada: Nefrocalcinosis.La AI es una alteración de la estructura y apariencia del esmalte con un origen genético que afecta en su mayoría a todos los dientes. Puede presentarse aislada o asociada a síndromes. Se distinguen 3 tipos (hipoplásico, hipocalcificado o hipomadurado) y entre ellos existen 15 subtipos, basado en las manifestaciones clínicas y el modo en que se transmite. Entre los genes descritos están: AMELX, ENAM, FAM83H, KLK4 y MMP20. La nefrocalcinosis (NC) es una enfermedad comúnmente caracterizada por la precipitación de sales de calcio en el tejido renal. En los pacientes con este síndrome, el daño en la función renal es variable y puede demorarse hasta la adultez a pesar de la presencia típica de hiperecogenicidad en la niñez. La relación entre los defectos de esmalte y la NC aun es incierta, pudiendo ser de tipo medular o cortical, siendo la primera la más común. El objetivo de esta revisión bibliográfica es detallar las características y tipos de ambas entidades, así como describir los casos publicados en la literatura. La mayoría de los reportes que se hacen cumplen un patrón autosómico recesivo, generalmente por matrimonios consanguíneos, donde se presenta la NC de tipo medular y la AI es de tipo hipoplásico en su mayoría, que se caracteriza por ser un defecto cuantitativo de esmalte, donde clínicamente se observa ausencia del mismo...
Amelogenesis Imperfecta -Nephrocalcinosis Syndrome is a rare disease characterized by the presence of Amelogenesis Imperfecta (AI) mostly hypoplastic type associated with a kidney disease called: Nephrocalcinosis. The AI is an alteration of the structure and appearance of the enanel with a genetic origin that mostly affects all the teeth. There may be isolated or associated with syndromes. There are 3 types (hypoplastic, hypocalcification or hypomineralised) and among them, there are 15 subtypes based on clinical manifestations and the mode how it is transmitted. Among the genes described are: AMELX, ENAM, FAM83H, KLK4 and MMP20. Nephrocalcinosis (NC) is a disease commonly characterized by the precipitation of calcium salts in the renal tissue. In patients with this syndrome, impaired renal function is variable and may be delayed until adulthood despite the presence of typical hyperechogenicity in childhood. The relationship between enamel defects and NC is still uncertain and may be cortical or medullary type, being the most common the first one. The aim of this review is to describe the characteristics and types of both entities, and to describe the cases published in the literature. Most reports have an autosomal recessive pattern, usually by consanguineous marriages, which it is presents mostly the NC medullary type and hypoplastic type of AI, which is characterized like a quantitative defect of enamel, where clinically observed absence of enamel...
Subject(s)
Humans , Male , Female , Amelogenesis Imperfecta/diagnosis , Dental Enamel/abnormalities , Nephrocalcinosis/etiology , Nephrocalcinosis/pathology , Dental Restoration, Permanent , Fluorosis, Dental , Kidney Diseases , Mouth DiseasesABSTRACT
PURPOSE: To investigate nephrocalcinosis due to hyperoxaluria induced by two different inducing agents in rats. METHODS: Forty Sprague-Dawley male rats were randomly distributed into four groups: Group1 (Clinical control, n = 10); Group 2 (0.5% Ethylene Glycol + Vitamin D3, n = 10); Group 3 (1.25% Ethylene Glycol, n = 10); and Group 4 (5%Hydroxy L-proline, n = 10). Five animals from each group were euthanized after one week of follow-up (M1 Moment) and the remaining, after four weeks (M2 Moment). All animals underwent 24h urine dosages of calcium, oxalate, uric acid, citrate and serum creatinine. Histology and histomorphometric analyses were performed using Image J program in the hematoxylin-eosin stains. Calcium deposits in the renal parenchyma were quantified by PIXE technique (Proton Induced X-Ray Emission). RESULTS: 24h urinary parameters did not show any significant variations after 28 days of experiment except by hyperoxaluria that was significantly higher in Group 3. Histomorphometric analyses showed a significantly higher nephrocalcinosis in Group 2 (p<0.01). The calcium deposits in the renal parenchyma were 10 and 100 times higher in Group 2 in comparison to other groups in the M1 and M2 moments, respectively. CONCLUSION: The Group 2 (vitamin D3+Ethylene Glycol 0.5%) was the best model to induce nephrocalcinosis in rats after 28 days.
Subject(s)
Animals , Male , Rats , Hyperoxaluria/complications , Nephrocalcinosis/etiology , Calcium/urine , Citric Acid/urine , Hyperoxaluria/pathology , Kidney/pathology , Nephrocalcinosis/pathology , Oxalates/urine , Random Allocation , Rats, Sprague-Dawley , Reference Values , Time Factors , Uric Acid/urine , Urine/chemistryABSTRACT
No abstract available.
Subject(s)
Adult , Female , Humans , Acidosis/complications , Acidosis, Renal Tubular/drug therapy , Aquaporin 2/analysis , Biomarkers/analysis , Biopsy , Immunohistochemistry , Kidney Tubules/chemistry , Nephrocalcinosis/etiology , Proton-Translocating ATPases/analysis , Sodium Bicarbonate/therapeutic use , Tomography, X-Ray Computed , Treatment OutcomeABSTRACT
Renal tubular acidosis [RTA] is a constellation of syndromes arising from different derangements of tubular acid transport. Recent advances in the biology of urinary acidification have allowed us to discern various molecular mechanisms responsible for these syndromes. RTA often presents as renal stone disease with nephrocalcinosis, ricket/osteomalacia and growth retardation in children with ultimate short stature in adulthood. The case reported here has features of distal renal tubular acidosis [dRTA], hypokalemic paralysis, primary hypothyroidism, growth retardation, osteomalacia and osteopenia leading to stress fracture. All these features presenting in a single case [as in our case] is a rare occurrence, so far other cases of distal renal tubular acidosis [dRTA] have been reported
Subject(s)
Humans , Female , Adult , Acidosis, Renal Tubular/diagnosis , Hypokalemia/complications , Nephrocalcinosis/etiology , Paralysis/etiology , Growth , Bone and Bones/pathology , /etiology , Hypothyroidism/etiology , Osteoporosis/etiology , Osteoporotic Fractures , Fractures, Spontaneous/etiologyABSTRACT
Introducción. La difusión de la colonoscopía incrementó el uso del fosfato sódico oral (NaP). Se han notificado complicaciones como deshidratación, hipotensión, insuficiencia renal aguda e insuficiencia renal crónica con nefrocalcinosis, y hasta casos fatales de hiperfosfatemia severa. Basado en la evidencia científica actual, en el presente trabajo se presentan los riesgos y contraindicaciones de la utilización de laxantes de fosfato sódico y cómo evitarlos. Material y métodos. Se realizó un análisis bibliográfico sobre el tema en PubMed y Google Advanced Search, de publicaciones en español e inglés, en el que se incluyen ensayos clínicos, revisiones bibliográficas, cartas, editoriales, guías prácticas, meta análisis y revisiones Cochrane. Resultados. Las complicaciones por NaP se relacionan con patologías que incrementan la absorción del fosfato, con hiperparatiroidismo y con disfunción renal. También se asocian con dosis mayores a 60 g y con intervalos entre las tomas menores a 5 h, y son facilitadas por la deshidratación. Se reportaron algunos casos en los que no se respetaron estas condiciones. La insuficiencia renal por nefrocalcinosis es irreversible. Conclusión. Se debe realizar una selección adecuada de los pacientes para evitar el uso de NaP en aquellos que presenten riesgo de desarrollar hiperfosfatemia o insuficiencia renal; además, es necesario efectuar una correcta hidratación oral, no administrar más de 60 g de NaP y evitar que los intervalos entre las dosis sean menores a 5 h.
Introduction. The spread of colonoscopy has increased the use of oral sodium phosphate (OSP). Complications such as dehydration, hypotension, acute renal failure and chronic kidney disease with nephrocalcinosis and even fatal cases of severe hyperphosphatemia have been reported. The risk and contraindications of OSP use and the ways to avoid them are shown in this paper according to the scientific evidence. Material and methods. Bibliographic analysis on this subject is carried in PubMed and Google Advanced Search, publications in Spanish and English, including clinical trials, bibliographic revisions, letters, editorials, practical guidelines, meta analyses and Cochrane reviews. Results. OSP complications are related to pathologies that increase its absorption, with hyperparathyroidism and with kidney impairment. They are also associated with OSP doses >60 g and with dose intervals <5 h and are facilitated by dehydration. Some cases have been reported in patients without those conditions. Nephrocalcinosis kidney disease is irreversible. Conclusion. Adequate patient selection is mandatory to avoid OSP in patients with risk of developing hyperphosphatemia or renal impairment; proper oral hydration is also essential as is not administering more than 60 g OSP, and avoiding dose intervals <5 h.
Introdução. A difusão da colonoscopia aumentou o uso de fosfato de sódio oral (NaP). Têm sido relatadas complicações como desidratação, hipotensão, insuficiência renal aguda e insuficiência renal crônica com nefrocalcinose, e até casos fatais de hiperfosfatemia severa. Com base na evidência científica atual, são apresentados os riscos e contraindicações da utilização de laxantes de fosfato de sódio e a forma de evitá-los. Material e métodos. Foi feita uma análise bibliográfica sobre o tema (publicações em espanhol e inglês) em PubMed e Google Advanced Search que abrange ensaios clínicos, revisões bibliográficas, cartas, editoriais, guias práticos, meta-análise e revisões Cochrane. Resultados. As complicações por NaP se associam a patologias que aumentam a absorção de fosfato, a hiperparatiroidismo e a disfunção renal. Também se associam a doses maiores que 60 g e intervalos entre as tomadas menores que 5 h, e são facilitadas pela desidratação. São relatados casos em estas condições não foram respeitadas. A insuficiência renal por nefrocalcinose é irreversível. Conclusão. Deve ser feita uma seleção adequada dos pacientes para evitar o uso de NaP naqueles com risco de desenvolver hiperfosfatemia ou insuficiência renal; além disso, é necessário realizar uma correta hidratação oral, não administrar mais do que 60 g de NaP e evitar intervalos entre as doses menores que 5 h.
Subject(s)
Colonoscopy/methods , Phosphates/administration & dosage , Phosphates/therapeutic use , Premedication/methods , Hyperphosphatemia/etiology , Hyperphosphatemia/therapy , Laxatives/administration & dosage , Laxatives/adverse effects , Nephrocalcinosis/etiology , Nephrocalcinosis/therapyABSTRACT
El Síndrome de Bartter (SB) es un grupo heterogéneo de tubulopatías autosómicas recesivas, perdedoras de sal e hipokalémicas. Se han identificado cinco tipos de SB causados por diferentes defectos genéticos, uno de ellos está asociado con sordera neurosensorial (SBSN). Recientemente se han descrito mutaciones en el gen SBND, mapeado en el cromosoma 1p31, asociadas con BSNS. El gen Barttin, codifica para una subunidad B esencial, subunidad de los canales ClC-ka y ClC-kb. Ambas subunidades están co- expresadas en la membrana basolateral de los túbulos renales, en las ramas delgada y gruesa del asa de Henle, y en la vascularización del oído interno. En el presente trabajo se describen los casos clínicos de dos hermanas venezolanas hijas de padres consanguíneos (primo-hermanos) de Jadacaquiva en la Península de Paraguaná, estado Falcón. La secuencia de análisis del gen SBSN mostró que las niñas afectadas eran homocigotas para una transición C-T en axón 1. Esta alteración resulta en una mutación ausente, G47R, la cual suprime el efecto estimulante sobre el barttin de la subunidad del canal ClC-KB. Estas niñas con la mutación G47R presentaron polihidramnios, partoprematuro y pérdida de sal. Sin embargo, la tasa de filtración glomerular de las pacientes es normal. Las manifestaciones clínicas son más moderadas en pacientes con mutación G47R, en relación a otros pacientes publicados con SBSN. Éste es el primer reporte de casos con SBSN en Venezuela.
Bartter syndrome (BS) is a heterogeneous group of autosomal recessive hypokalemic salt-losing tubulopathies. Five types of BS caused by different genetic defects have been identified, and one of them is associated with sensorineural deafness (BSND). Mutations in the recently described BSND gene, mapped in chromosome 1p31, have been reported to be associated with BSNS. This gene encodes barttin, an essential B-subunit ClC-ka and ClC-kb channels. Both subunits are co-expressed in basolateral membranes of renal tubules in the thin and thick ascending limb of Henles loop and in the stria vascularis of the inner ear. We studied two venezuelan sisters, daughters of consanguineous parents from a small town called Jadacaquiva, in the peninsula of Paraguaná, Venezuela. Sequence analysis of the BSND gene showed that the affected members were homozygous for C to T transition in axon 1. This alteration results in a missense mutation, G47R that has been previously shown to abolish the stimulatory effect on the subunit barttin of the ClC-Kb channel. The patients with the G47R mutation presented polyhidramnios, premature birth and salt loss. Nevertheless, glomerular filtration rate is normal. Clinical manifestations are moderate in patients with G47R mutation with regard to other patients reported with BSND. This is the first report of BSND in Venezuela.
Subject(s)
Humans , Female , Child, Preschool , Potassium Citrate/therapeutic use , Chromosomes/genetics , Nephrocalcinosis/etiology , Bartter Syndrome/genetics , Hypokalemia/etiology , Mineralocorticoid Receptor AntagonistsABSTRACT
The nephrocalcinosis is a pathologic entity rarely revealed to the neonatal period. The etiologies are dominated by hypercalciuria of prematurity whose origin is mostly iatrogenic. In full-term newborn, it refers primarily to the early revelation tubulopathy [distal tubular acidosis, Bartter syndrome] and primary hyperoxaluria, pathology common in the North African population. The prognosis depends on the extension of calcium deposits, the etiology and therapeutic options. In the pediatric nephrology department of the Charles Nicolle hopital, and during a period of 7 years from 2002 to 2008, we supported for nephrocalcinosis, 5 full-term newborns who fall into 3 boys and 2 girls. The average age of discovery is 19 days with extremes of 15 to 25 days. Consanguinity was present in 4 cases. The circumstances of discovery are: Acute dehydration with underweight in 2 patients. A urinary tract infection in one patient. NeonataI convulsions secondary to hypomagnesaemia. A chance discovery in the exploration of a symptomatology evocative of a gastrosophageal ref lux disease in a patient. Explorations turned up the diagnosis of distal tubular acidosis in 2 patients, a primary hyperoxaluria in 1 patient, idiopathic hypercalciuria in a patient and a family hypomagnesaemia with hypercalciuria and nephrocalcinosis in another patient
Subject(s)
Humans , Male , Female , Infant, Newborn , Nephrocalcinosis/diagnostic imaging , Nephrocalcinosis/etiology , Acidosis, Renal Tubular , Hyperoxaluria , Hypercalciuria , Magnesium/bloodABSTRACT
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.
Subject(s)
Humans , Female , Adult , Edema/etiology , Furosemide/adverse effects , Nephrocalcinosis/diagnosis , Nephrocalcinosis/etiology , Nephrocalcinosis , Nephrocalcinosis/therapyABSTRACT
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.
Subject(s)
Male , Female , Child , Acidosis, Renal Tubular/complications , Acidosis, Renal Tubular/diagnosis , Nephrocalcinosis/diagnosis , Nephrocalcinosis/etiology , Nephrolithiasis/diagnosis , Nephrolithiasis/etiology , Rickets/etiologyABSTRACT
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
Subject(s)
Child , Diagnostic Imaging , Early Diagnosis , Nephrocalcinosis/diagnosis , Nephrocalcinosis/etiology , Nephrocalcinosis/prevention & control , Nephrocalcinosis/therapySubject(s)
Adolescent , Basal Ganglia/pathology , Calcium/blood , Female , Genetic Predisposition to Disease , Humans , Kidney Failure, Chronic/complications , Macular Degeneration/etiology , Magnesium/blood , Nephrocalcinosis/etiology , Renal Tubular Transport, Inborn Errors/complications , SyndromeABSTRACT
Primary hyperoxaluria type I [PHI] is a rare metabolic disease caused by deficiency or abnormalities of the peroxisomal enzyme alanine-glyoxylate aminotransferase. In the majority of patients, the clinical expression of PHI is characterized by recurrent calcium oxalate urolithiasis, nephrocalcinosis and renal failure. Patients and Sixteen children aged 5 months to 14 years were diagnosed as PHI over a 10-year period ending in June 1997. The diagnosis was established by quantitative urinary oxalate excretion, or by a high urine oxalate/creatinine ratio on spot urines. The majority of patients had nephrolithiasis [13/16] and/or nephrocalcinosis [12/16]. Four patients already had advanced chronic renal failure at the time of diagnosis. Altogether, PHI accounted for 20% of nephrocalcinosis and 6% of end-stage renal disease. Two patients had a complete response to pyridoxine therapy, while four patients had a partial response. Eight patients underwent organ transplantation, three underwent kidney transplantation, three received combined liver/kidney transplantation for end-stage renal disease, and two received isolated preemptive liver transplantation. Combined organ transplantation provided the best long-term results
Subject(s)
Humans , Male , Female , Kidney Failure, Chronic/etiology , Child , Nephrocalcinosis/etiologyABSTRACT
We present the case of an adolescent with hypercalcemia secondary to unrecognized hyperparathyroidism, which lead to complications such as pancreatitis, diabetes mellitus, and nephrocalcinosis. Although hypercalcemia is not common in the pediatric age, its early recognition and intervention are crucial for the prevention of highly morbid complications
Subject(s)
Adolescent , Humans , Male , Adenoma/complications , Diabetes Mellitus, Type 1/etiology , Hypercalcemia/etiology , Hyperparathyroidism/etiology , Nephrocalcinosis/etiology , Pancreatitis/etiology , Parathyroid Neoplasms/complications , Pancreatic Pseudocyst/etiology , Abdomen, Acute/etiology , Adenoma/surgery , Parathyroid Neoplasms/surgeryABSTRACT
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