ABSTRACT
BACKGROUND: Secondary pseudohypoaldosteronism (S-PHA) is a rare condition resulting from renal tubular resistance to aldosterone in children with urinary tract infection (UTI) and/or nephrourological malformations. It is characterized by nonspecific symptoms but with the potential for life-threatening complications. We aim to evaluate the clinical manifestations, diagnostic approach, and therapeutic interventions in children with S-PHA, along with a review of recent publications. METHODS: A retrospective observational descriptive study was conducted on S-PHA cases diagnosed over the last 15 years at a tertiary pediatric nephrology unit. The literature for the last 10 years was reviewed. RESULTS: Twelve patients (10 males, 6 days to 6 months) were identified. Weight loss was the main reason for consultation (50%). Ninety-two percent of patients had an underlying nephrourological pathology and 62% concomitant confirmed UTI. Seven out of 12 children were admitted to the PICU. A subsequent extrapontine myelinolysis was observed in one patient as neurological sequelae. Twenty-one articles related to S-PHA have been identified on PubMed and Embase. CONCLUSIONS: S-PHA should be considered in infants under 6 months of age with UTI and/or CAKUT. Obstructive anomalies and vesicoureteral reflux can be found, affecting both unilateral and bilateral systems. Early medical and surgical interventions are crucial and require close monitoring to avoid iatrogenic complications.
ABSTRACT
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Subject(s)
Humans , Male , Child , Brain Diseases , Retinitis Pigmentosa , Ubiquinone , Seizures, Febrile , Psychomotor PerformanceSubject(s)
Abnormalities, Multiple/genetics , Esophageal Achalasia/genetics , Intracellular Signaling Peptides and Proteins/genetics , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/physiopathology , Child , Esophageal Achalasia/diagnostic imaging , Esophageal Achalasia/physiopathology , Female , Humans , SyndromeABSTRACT
La glomerulonefritis rápidamente progresiva de etiología posinfecciosa es rara en la infancia, con una prevalencia estimada del 1-3 %. La mayoría debuta como insuficiencia renal aguda y su tratamiento se basa en el uso de corticoides y ciclofosfamida. Si se realiza diagnóstico precoz, el 70 % presenta una recuperación temprana de la función renal. En los últimos años, se han descrito "glomerulopatías por C3", que presentan características que se superponen. Son útiles, en el diagnóstico diferencial, la inmunofluorescencia y la determinación del factor nefrítico. Se presenta un varón de 4 años que acude por fiebre y cuadro respiratorio. Se observa microhematuria, proteinuria, descenso de filtrado glomerular y descenso de C3, y se sospecha glomerulonefritis aguda. Se realiza una biopsia, cuya microscopía óptica muestra la presencia de semilunas epiteliales, y la electrónica, depósitos subepiteliales en forma de joroba, por lo que se diagnostica glomerulonefritis rápidamente progresiva de etiología posinfecciosa.
Postinfectious glomerulonephritis is rarely presented as rapidly progressive glomerulonephritis in children; the prevalence is approximately 1-3 %. Most children have acute onset of renal failure; initial treatment involves corticosteroids and immunosuppressive therapy. Early diagnosis improves prognosis. In recent years, an entity known as "C3 glomerulopathies" has been described, presenting characteristics that overlap. In the differential diagnosis, the immunofluorescence and the determination of the nephritic factor are useful. We report a 4-year-old boy with fever, respiratory symptoms and hyporexia. Microhematuria, proteinuria, decline in glomerular filtration and depressed C3 were found. Acute glomerulonephritis was suspected. Renal biopsy showed crescent formation, immunofluorescence staining for C3 and subepithelial humps. Therefore, postinfectious glomerulonephritis with crescent formations was diagnosed.
Subject(s)
Humans , Male , Child, Preschool , Glomerulonephritis/diagnosis , Pediatrics , Adrenal Cortex Hormones/therapeutic use , Glomerulonephritis/drug therapy , Immunosuppressive Agents/therapeutic useABSTRACT
Postinfectious glomerulonephritis is rarely presented as rapidly progressive glomerulonephritis in children; the prevalence is approximately 1-3 %. Most children have acute onset of renal failure; initial treatment involves corticosteroids and immunosuppressive therapy. Early diagnosis improves prognosis. In recent years, an entity known as "C3 glomerulopathies" has been described, presenting characteristics that overlap. In the differential diagnosis, the immunofluorescence and the determination of the nephritic factor are useful. We report a 4-year-old boy with fever, respiratory symptoms and hyporexia. Microhematuria, proteinuria, decline in glomerular filtration and depressed C3 were found. Acute glomerulonephritis was suspected. Renal biopsy showed crescent formation, immunofluorescence staining for C3 and subepithelial humps. Therefore, postinfectious glomerulonephritis with crescent formations was diagnosed.
La glomerulonefritis rápidamente progresiva de etiología posinfecciosa es rara en la infancia, con una prevalencia estimada del 1-3 %. La mayoría debuta como insuficiencia renal aguda y su tratamiento se basa en el uso de corticoides y ciclofosfamida. Si se realiza diagnóstico precoz, el 70 % presenta una recuperación temprana de la función renal. En los últimos años, se han descrito "glomerulopatías por C3", que presentan características que se superponen. Son útiles, en el diagnóstico diferencial, la inmunofluorescencia y la determinación del factor nefrítico. Se presenta un varón de 4 años que acude por fiebre y cuadro respiratorio. Se observa microhematuria, proteinuria, descenso de filtrado glomerular y descenso de C3, y se sospecha glomerulonefritis aguda. Se realiza una biopsia, cuya microscopía óptica muestra la presencia de semilunas epiteliales, y la electrónica, depósitos subepiteliales en forma de joroba, por lo que se diagnostica glomerulonefritis rápidamente progresiva de etiología posinfecciosa.
Subject(s)
Glomerulonephritis/microbiology , Acute Disease , Child, Preschool , Disease Progression , Glomerulonephritis/diagnosis , Humans , Male , Time FactorsABSTRACT
La estenosis de la arteria renal es una causa rara de hipertensión arterial neonatal de origen renovascular. Hay muy pocos casos descritos en la literatura en esta etapa. La mayor parte de los pacientes con esta afectación permanecen asintomáticos, y la hipertensión se detecta en las revisiones pediátricas rutinarias. El diagnóstico puede realizarse mediante la combinación de hallazgos bioquímicos y radiológicos. El manejo inicial del paciente se basa en terapia farmacológica hasta alcanzar un crecimiento adecuado para evaluar la reparación definitiva de la lesión vascular o la nefrectomía en caso de supresión funcional del riñón afecto. Se presenta a una paciente femenina recién nacida a término, con hipertensión arterial e importante falla cardíaca congestiva, originada por una estenosis unilateral de la arteria renal, con supresión funcional y atrofia del riñón afecto, que precisó importante soporte inotrópico y antihipertensivo durante los primeros días de vida, con importante mejoría clínica posterior.
Renal artery stenosis represents a rare cause of neonatal arterial hypertension of renovascular origin, having been described few cases in the literature at this stage of life. Most patients with this disease remain asymptomatic; hypertension can be detected in routine pediatric revisions. Diagnosis can be performed by combining biochemical and radiological findings. The initial management consists of pharmacological therapy in order to achieve adequate growth. Subsequently, it is necessary to assess definitive repair of the vascular lesion or nephrectomy in the case of functional abolition of the affected kidney. We present a term newborn female, with arterial hypertension and an important congestive heart failure, caused by a unilateral renal artery stenosis, with functional abolition and atrophy of the affected kidney, which required an important inotropic and antihypertensive support during her first days of life, with significant clinical improvement subsequently.
Subject(s)
Humans , Female , Infant, Newborn , Renal Artery Obstruction/diagnosis , Heart Failure/diagnosis , Hypertension/diagnosis , Renal Artery Obstruction/complications , Heart Failure/etiology , Hypertension/etiologyABSTRACT
Renal artery stenosis represents a rare cause of neonatal arterial hypertension of renovascular origin, having been described few cases in the literature at this stage of life. Most patients with this disease remain asymptomatic; hypertension can be detected in routine pediatric revisions. Diagnosis can be performed by combining biochemical and radiological findings. The initial management consists of pharmacological therapy in order to achieve adequate growth. Subsequently, it is necessary to assess definitive repair of the vascular lesion or nephrectomy in the case of functional abolition of the affected kidney. We present a term newborn female, with arterial hypertension and an important congestive heart failure, caused by a unilateral renal artery stenosis, with functional abolition and atrophy of the affected kidney, which required an important inotropic and antihypertensive support during her first days of life, with significant clinical improvement subsequently.
La estenosis de la arteria renal es una causa rara de hipertensión arterial neonatal de origen renovascular. Hay muy pocos casos descritos en la literatura en esta etapa. La mayor parte de los pacientes con esta afectación permanecen asintomáticos, y la hipertensión se detecta en las revisiones pediátricas rutinarias. El diagnóstico puede realizarse mediante la combinación de hallazgos bioquímicos y radiológicos. El manejo inicial del paciente se basa en terapia farmacológica hasta alcanzar un crecimiento adecuado para evaluar la reparación definitiva de la lesión vascular o la nefrectomía en caso de supresión funcional del riñón afecto. Se presenta a una paciente femenina recién nacida a término, con hipertensión arterial e importante falla cardíaca congestiva, originada por una estenosis unilateral de la arteria renal, con supresión funcional y atrofia del riñón afecto, que precisó importante soporte inotrópico y antihipertensivo durante los primeros días de vida, con importante mejoría clínica posterior.
Subject(s)
Heart Failure/diagnosis , Hypertension/diagnosis , Renal Artery Obstruction/diagnosis , Female , Heart Failure/etiology , Humans , Hypertension/etiology , Infant, Newborn , Renal Artery Obstruction/complicationsABSTRACT
El síndrome renal-coloboma es una enfermedad autosómica dominante caracterizada por hipodisplasia renal y coloboma. Se presenta el caso de una niña de 12 años afecta de enfermedad renal crónica, colobomas papilares bilaterales y mutación excepcional del gen PAX-2. Con diagnóstico prenatal de hipoplasia renal bilateral, a los 5 días de vida, presentó clínica y datos analíticos compatibles con enfermedad renal crónica. En los controles posteriores, se apreció reflujo vesicoureteral grado ii bilateral, que se resolvió espontáneamente, proteinuria mantenida en rango no nefrótico controlada con enalapril y colobomas bilaterales con atrofia macular izquierda. La función renal se mantuvo estable. El estudio genético demostró mutación p.R104X de novo sin sentido en heterocigosis. Globalmente, existen documentados 80 casos de síndrome renal-coloboma asociado a mutaciones de este gen. Las evaluaciones oftalmológicas y genéticas son fundamentales en los casos de hipodisplasia renal. La función renal determinará el pronóstico. Se realizó una revisión bibliográfica de la etiopatogenia de la enfermedad.
Renal-coloboma syndrome is an autosomal dominant disease characterized by renal hypodysplasia and coloboma. A case of a 12-year-old girl with chronic kidney disease, bilateral optic nerve colobomas and an exceptional PAX-2 gene mutation is presented. Diagnosed in prenatal scans with bilateral renal hypoplasia, she presented clinical and laboratory findings of chronic kidney disease at 5 days of life. Following tests showed grade II bilateral vesicoureteral reflux spontaneously solved, maintained non nephrotic proteinuria controlled with enalapril and bilateral colobomas with left macular atrophy. Renal function remained stable. Genetic study showed de novo and non sense mutation p.R104X in heterocygosis. Currently there are 80 published cases of renal-coloboma syndrome associated with this gene mutations. Ophthalmologic and genetic evaluations are crucial in cases affected by renal hypodysplasia. Renal function will establish prognosis. We review the etiopathogenesis of this disease.
Subject(s)
Humans , Female , Child , Vesico-Ureteral Reflux/genetics , Coloboma/genetics , Renal Insufficiency/genetics , MutationABSTRACT
Renal-coloboma syndrome is an autosomal dominant disease characterized by renal hypodysplasia and coloboma. A case of a 12-year-old girl with chronic kidney disease, bilateral optic nerve colobomas and an exceptional PAX-2 gene mutation is presented. Diagnosed in prenatal scans with bilateral renal hypoplasia, she presented clinical and laboratory findings of chronic kidney disease at 5 days of life. Following tests showed grade II bilateral vesicoureteral reflux spontaneously solved, maintained non nephrotic proteinuria controlled with enalapril and bilateral colobomas with left macular atrophy. Renal function remained stable. Genetic study showed de novo and non sense mutation p.R104X in heterocygosis. Currently there are 80 published cases of renal-coloboma syndrome associated with this gene mutations. Ophthalmologic and genetic evaluations are crucial in cases affected by renal hypodysplasia. Renal function will establish prognosis. We review the etiopathogenesis of this disease.
El síndrome renal-coloboma es una enfermedad autosómica dominante caracterizada por hipodisplasia renal y coloboma. Se presenta el caso de una niña de 12 años afecta de enfermedad renal crónica, colobomas papilares bilaterales y mutación excepcional del gen PAX-2. Con diagnóstico prenatal de hipoplasia renal bilateral, a los 5 días de vida, presentó clínica y datos analíticos compatibles con enfermedad renal crónica. En los controles posteriores, se apreció reflujo vesicoureteral grado ii bilateral, que se resolvió espontáneamente, proteinuria mantenida en rango no nefrótico controlada con enalapril y colobomas bilaterales con atrofia macular izquierda. La función renal se mantuvo estable. El estudio genético demostró mutación p.R104X de novo sin sentido en heterocigosis. Globalmente, existen documentados 80 casos de síndrome renal-coloboma asociado a mutaciones de este gen. Las evaluaciones oftalmológicas y genéticas son fundamentales en los casos de hipodisplasia renal. La función renal determinará el pronóstico. Se realizó una revisión bibliográfica de la etiopatogenia de la enfermedad.
Subject(s)
Coloboma/genetics , Mutation , Renal Insufficiency/genetics , Vesico-Ureteral Reflux/genetics , Child , Female , HumansSubject(s)
Clinical Protocols , Craniocerebral Trauma/therapy , Emergency Service, Hospital/standards , Hospitals, University/standards , Quality Assurance, Health Care/organization & administration , Craniocerebral Trauma/diagnostic imaging , Craniocerebral Trauma/epidemiology , Emergency Service, Hospital/statistics & numerical data , Female , Glasgow Coma Scale , Hospitals, University/statistics & numerical data , Humans , Infant , Infant, Newborn , Intensive Care Units, Pediatric/statistics & numerical data , Male , Spain/epidemiology , Tomography, X-Ray Computed/statistics & numerical dataABSTRACT
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