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.

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.

Nuclear factor kappa-B subunit 2 (NF-κB2/p100/p52), encoded by NFKB2 (MIM: 164012) belongs to the NF-κB family of transcription factors that play a critical role in inflammation, immunity, cell proliferation, differentiation and survival. Heterozygous C-terminal mutations in NFKB2 have been associated with early-onset common variable immunodeficiency (CVID), central adrenal insufficiency and ectodermal dysplasia. Only two previously reported cases have documented decreased natural killer (NK) cell cytotoxicity, and little is known about the role of NF-κB2 in NK cell maturation and function. Here we report a 13-year-old female that presented at 6 years of age with a history of early onset recurrent sinopulmonary infections, progressive hair loss, and hypogamaglobulinemia consistent with a clinical diagnosis of CVID. At 9 years of age she had cytomegalovirus (CMV) pneumonia that responded to ganciclovir treatment. Functional NK cell testing demonstrated decreased NK cell cytotoxicity despite normal NK cell numbers, consistent with a greater susceptibility to systemic CMV infection. Research exome sequencing (ES) was performed and revealed a novel de novo heterozygous nonsense mutation in NFKB2 (c.2611C>T, p.Gln871*) that was not carried by either of her parents. The variant was Sanger sequenced and confirmed to be de novo in the patient. At age 12, she presented with a reactivation of the systemic CMV infection that was associated with severe and progressive nephrotic syndrome with histologic evidence of pedicellar effacement and negative immunofluorescence. To our knowledge, this is the third NF-κB2 deficient patient in which an abnormal NK cell function has been observed, suggesting a role for non-canonical NF-κB2 signaling in NK cell cytotoxicity. NK cell function should be assessed in patients with mutations in the non-canonical NF-κB pathway to explore the risk for systemic viral infections that may lead to severe complications and impact patient survival. Similarly NF-κB2 should be considered in patients with combined immunodeficiency who have aberrant NK cell function. Further studies are needed to characterize the role of NF-κB2 in NK cell cytotoxic function.

Bullous Henoch-Schönlein purpura. Case report. / Púrpura de Schönlein-Henoch Buloso. Caso clínico.

Henoch-Schönlein purpura (HSP) or IgA Vasculitis is the most common childhood vasculitis. The classic tetrad of signs and symptoms include palpable purpura, arthralgia, abdominal pain and renal disease. The occurrence of hemorrhagic bullae in children with HSP is rarely encountered. Objec tive: To report an unusual cutaneous manifestation of HSP in children. CASE REPORT: A 14-year-old girl complained about a 2-week painful bullous rash in both lower extremities and multiple arthral gias. There was no history of abdominal pain or urinary symptoms. In both lower extremities, there were numerous palpable purpura and hemmorrhagic bullae. In light of clinical findings, laboratory tests and skin biopsy are requested. The histopathology described intraepidermal blisters, acanthosis, spongiosis and perivascular dermal infiltrate. Direct immunofluorescence (IFD) (+) for IgA. The diagnosis of bullous HSP was made and treatment with endovenous corticosteroids was initiated. Three days after overlapping to oral corticosteroids, new ecchymotic lesions appeared in both legs. Due to the persistence of cutaneous involvement and negative control tests, azathioprine was associa ted obtaining a good response. CONCLUSION: Although bullous lesions in HSP does not add morbidity, it is often an alarming phenomenon with multiple differential diagnoses. The anti-inflamatory effect of corticoids is likely to be beneficial in the treatment of patients with severe cutaneous involvement through inhibition of proinflammatory transcription factors and decreasing the production of the metalloproteinases.

Púrpura de Schönlein-Henoch Buloso. Caso clínico / Bullous Henoch-Schönlein purpura. Case report

Resumen: Introducción: El púrpura de Schonlein-Henoch (PSH) O Vasculitis IgA es la vasculitis sistémica más frecuente de la edad pediátrica. Se manifiesta clínicamente como púrpura palpable, artralgias, dolor abdominal y compromiso renal. El púrpura palpable buloso a diferencia de lo que ocurre en la edad adulta, es muy infrecuente en la infancia. Objetivo: Reportar una forma infrecuente de presentación cutánea del PSH en niños. Caso clínico: Niña de 14 años con historia de 2 semanas con ampollas dolorosas múltiples y confluentes en ambas extremidades inferiores asociado a artralgias. A la histo-patología destacan vesículas intracórneas, epidermis con acantosis y espongiosis e infiltrado dérmico perivascular. Inmunofluorescencia directa (+) para IgA. Se plantea el diagnóstico de PSH ampollar y se realiza tratamiento inicial con corticoides intravenosos. A los tres días del traslape a corticoides orales aparecen nuevas lesiones equimóticas en ambas piernas. Se decide asociar azatriopina e iniciar descenso de corticoides, obteniéndose buena respuesta. Conclusión: Si bien la formación de bulas en el PSH no agrega morbilidad, suele ser un fenómeno alarmante que requiere realizar diagnóstico di ferencial con otras patologías. El uso de corticoides estaría indicado en estos casos ya que disminuiría la producción de las metaloproteinsas responsables de la formación de las bulas.

Abstract: Henoch-Schönlein purpura (HSP) or IgA Vasculitis is the most common childhood vasculitis. The classic tetrad of signs and symptoms include palpable purpura, arthralgia, abdominal pain and renal disease. The occurrence of hemorrhagic bullae in children with HSP is rarely encountered. Objec tive: To report an unusual cutaneous manifestation of HSP in children. Case report: A 14-year-old girl complained about a 2-week painful bullous rash in both lower extremities and multiple arthral gias. There was no history of abdominal pain or urinary symptoms. In both lower extremities, there were numerous palpable purpura and hemmorrhagic bullae. In light of clinical findings, laboratory tests and skin biopsy are requested. The histopathology described intraepidermal blisters, acanthosis, spongiosis and perivascular dermal infiltrate. Direct immunofluorescence (IFD) (+) for IgA. The diagnosis of bullous HSP was made and treatment with endovenous corticosteroids was initiated. Three days after overlapping to oral corticosteroids, new ecchymotic lesions appeared in both legs. Due to the persistence of cutaneous involvement and negative control tests, azathioprine was associa ted obtaining a good response. Conclusion: Although bullous lesions in HSP does not add morbidity, it is often an alarming phenomenon with multiple differential diagnoses. The anti-inflamatory effect of corticoids is likely to be beneficial in the treatment of patients with severe cutaneous involvement through inhibition of proinflammatory transcription factors and decreasing the production of the metalloproteinases.

[Pyomyositis in children: report of two cases]. / Piomiositis en niños: Reporte de 2 casos.

Pyomyositis (PM) is an uncommon pyogenic infection of skeletal muscle and, when not properly treated, it can progress to a high-risk clinical situation with high mortality. Because it usually has a subacute presentation, diagnosis is often delayed. We present two cases of PM of the paraspinal muscles in healthy children and discuss the current state of knowledge of this disease.

Piomiositis en niños: Reporte de 2 casos / Pyomyositis in children: Report of two cases

Pyomyositis (PM) is an uncommon pyogenic infection of skeletal muscle and, when not properly treated, it can progress to a high-risk clinical situation with high mortality. Because it usually has a subacute presentation, diagnosis is often delayed. We present two cases of PM of the paraspinal muscles in healthy children and discuss the current state of knowledge of this disease.

La piomiositis (PM) es una infección piógena infrecuente del músculo estriado y, cuando no es tratada adecuadamente, puede evolucionar hasta una situación clínica de alto riesgo vital. Debido a su presentación usualmente subaguda, el diagnóstico es a menudo tardío. Presentamos dos casos clínicos de PM de la musculatura paraespinal en escolares sanos y se describe el estado actual del conocimiento de esta enfermedad.

[Urinary tract infection in pediatrics: controversies]. / Infección urinaria en pediatría: controversias.

Urinary tract infection is a frequent event in children. The correct diagnosis, management and study has been involved in major controversies in the last decade as a result of better design of scientific studies and evidence-based medicine in this area. A significant amount of our knowledge must be subjected to critical analysis because of new information available. This article describe some of the controversies in pediatric urinary tract infection that should be considered by the health team, highlighting the relevance of sample collection and the significant number of bacterial colonies, the type and duration of antibiotic treatment, the prescription of antibiotic prophylaxis and the required imaging study.

Síndrome hemolítico urémico / Hemolytic uremic syndrome

El síndrome hemolítico urémico incluye una triada clásica: anemia hemolítica microangiopática, trombocitopenia y disfunción renal aguda. Es preciso sospechar su diagnóstico en todo niño con historia de diarrea aguda sanguinolenta, para anticipar la evolución y las complicaciones que se asocian.

Association of isolated preauricular tags and nephrourological anomalies: case-control study.

Isolated preauricular tags (IPT) are considered minor malformations whereas nephrourological anomalies (NUA) are considered major malformations. Their incidences fluctuate between 5 and 10 per 1,000 and 1-3 per 100 live births, respectively. There is contradictory evidence regarding the incidence of NUA in infants with IPT. The objective of this study is to determine if there is a clinical association between IPT and NUA. A case-control study was made in a Pediatric hospital in Santiago, Chile, with infants born between April 2000 and April 2005, considering as cases those with IPT, and controls those infants born following the cases, paired by sex and without IPT. All subjects had a complete physical examination and a renal ultrasound to assess for the presence of congenital anomalies and NUA, respectively. One hundred cases and an equal number of controls were included. There were 41 females in each group. In the case group, two infants presented renal anomalies in the RUS: one left hydronephrosis and one case of left kidney agenesis. In the control group, two infants with anomaly were found: one with a left ureterocele and one case of bilateral duplex kidney. The observed incidence of NUA was similar in both groups to that reported in the literature for the general population. No significant statistical difference was found in the incidence of these abnormalities between patients who presented with IPT and those who did not. From our study, we suggest that RUS is not necessary in the routine evaluation of infants with IPT.

Hemolytic uremic syndrome associated with Entamoeba histolytica intestinal infection.

Amebiasis secondary to Entamoeba histolytica (E. histolytica) continues to be a major source of morbidity and mortality worldwide, mainly in developing countries. An association between amebic dysentery and hemolytic uremic syndrome (HUS) has been mentioned, but a cause-and-effect relationship has never been confirmed. We report the case of an 11-year-old healthy white female who developed severe bloody diarrhea after drinking contaminated unboiled water, developing classic HUS and requiring acute intermittent hemodialysis. The etiological study confirmed numerous cysts and hematophagous trophozoites of E. histolytica on stool smear, but without evidence of other pathogens. This report contributes to the concept that classic post-diarrheal HUS, usually related to colitis secondary to enterohemorragic Shiga-toxin producing Escherichia coli (E.coli) strains, may be associated with other pathogens, including E. histolytica. Additional information regarding mechanisms of virulence of E. histolytica and host immunological reaction is needed to clarify the temporal association of these two disorders (HUS and amebiasis).

[Hemolytic uremic syndrome: the experience of a pediatric center]. / Síndrome hemolítico urémico: experiencia de un centro pediátrico.

BACKGROUND: Hemolytic uremic syndrome (HUS) is one of the main causes of acute renal failure in the Chilean pediatric population. AIM: To report the features of patients with HUS, admitted to the pediatric ward of a clinical hospital. MATERIAL AND METHODS: Retrospective review of medical records of patients admitted with the diagnosis of HUS between 1995 and 2002. RESULTS: During the period, 58 patients were admitted with the diagnosis of HUS but only 43 (age range 1 month to 6 years, 22 females) had complete medical records for review. Ninety five percent presented with prodromic diarrhea, mainly dysenteric. Antibiotics were administered to 70%, in the previous days. Acute renal replacement, mainly peritoneal dialysis, was required in 40%. The clinical signs and laboratory parameters that correlated better with the indication for dialysis were anuria, hypertension, initial and permanently high serum creatinine and blood urea nitrogen. Four patients with blood urea nitrogen over 100 mg/dl but without anuria or hyperkalemia, were treated conservatively, and experienced an uneventful course (permissive azotemia). Hospital stay was almost 3 times greater in dialyzed than in non dialyzed children. No deaths related to HUS were reported in the study period. In an average follow up of 54 months, 11.6% of the patients developed chronic renal failure of diverse magnitude. CONCLUSIONS: Despite the fact that our study group behaved clinically similar to published HUS patients in other series, no mortality was observed in a retrospective analysis of patients with this disease.

[Urinary tract infection in childhood]. / Infección urinaria en la infancia.

The urinary tract infection (UTI) is one of the major causes of bacterial infection in children. Therefore an opportune diagnosis, an adequate treatment and a close follow up will prevent chronic renal damage. In this brief article UTI clinical characteristics and recommendations for diagnosis and treatment according to children age are reviewed.

[Congenital hepatic fibrosis. Report of five cases]. / Fibrosis hepática congénita: un espectro clínico variable. Casos clínicos.

BACKGROUND: Congenital hepatic fibrosis (CHF) is an autosomic dominant disease that has been associated with polycystic kidney disease. AIM: To describe the medical management of 5 children with CHF and to evaluate the presence and extension of the associated renal disease. PATIENTS AND METHODS: Retrospective review of the medical charts of 5 children with CHF, aged 2 to 14 years. RESULTS: Three children presented autosomic recessive polycystic kidney disease, which was diagnosed before the appearance of liver disease manifestations. They presented a more severe liver damage, with a more aggressive clinical course requiring use of transjugular intrahepatic porto-systemic shunts (TIPS) or surgical porto-systemic shunts to control portal hypertension. The other two children, in whom the diagnosed was based on asymptomatic hepatomegaly, had normal renal function and structure with a more benign clinical course. CONCLUSIONS: The diagnosis of CHF should be suspected not only in children with polycystic kidney disease but in those children with persistent, hard consistency, left lobe predominance hepatomegaly.

Captopril scintigraphy in the study of arterial hypertension in pediatrics.

Renovascular hypertension (RVH) is responsible for 10% of arterial hypertension in children. The early diagnosis of RVH permits specific treatment leading to the cure of hypertension and avoidance of parenchymal damage. Captopril renal scintigraphy (CRS) provides information on the renovascular cause of the arterial hypertension. To validate the usefulness of CRS in hypertensive children, clinical, scintigraphic, and radiological data from 20 patients (mean age 6.1+/-5.5 years) were reviewed. Two patients were newborns. All had renal ultrasound scans and 9 had aortograms. In 7 children, RVH was confirmed by angiography, and CRS was positive for RVH in 6 of these. CRS was negative for RVH in 12 of 13 children without RVH. CRS was non-diagnostic in 3 children with abnormal baseline renal scintigraphy and severely decreased relative renal function ( <35%), 1 of whom had RVH. No side effects of captopril renography were observed. Captopril renography provides a logical, non-invasive, safe, and cost-effective approach in the evaluation of children suspected of having RVH.

[Newborn hydronephrosis: dynamic renal scintigraphy with Tc99m MAG3 in the first month of life]. / Hidronefrosis del recién nacido: cintigrafía renal dinámica con Tc99m MAG3 durante el primer mes de vida.

BACKGROUND: The early and accurate diagnosis of obstructive uropathy in the newborn, prevents secondary complications and kidney damage. AIM: To study the usefulness of Tc99M MAG3 diuretic renogram in newborns with hydronephrosis. MATERIAL AND METHODS: Forty newborns, aged 1 to 30 days, with hydronephrosis, were studied. A Tc99M MAG3 diuretic renogram (DR) was done and its results were compared with clinical features and other imaging studies. Each kidney and its ureter, were considered a renal unit. RESULTS: Seventy six renal units were evaluated. Twenty six were normal on prenatal ultrasound examination and DR. In 11 of the 50 renal units with hydronephrosis, renal function was impaired. Thus, it was impossible to obtain an excretory curve. In 17 of the 39 remaining renal units, the absence of obstructive uropathy was demonstrated clinically. In 16 of these, the DR showed absence of obstruction. In 20 of 21 renal units with confirmed obstructive uropathy, DR showed an obstructive pattern. CONCLUSIONS: In newborns, there is an adequate Tc99M MAG3 uptake and diuretic response. Thus, DR becomes a good functional assessment method in newborns with hydronephrosis.

[Risk factors for permanent kidney damage in children with urinary tract infection]. / Factores de riesgo de daño renal permanente en niños con infección del tracto urinario.

BACKGROUND: In children, urinary tract infection (UTI) is a very common disease, and can cause permanent kidney damage. AIM: To determine risk factors for permanent kidney damage, in children with UTI. PATIENTS AND METHODS: In 337 children with UTI (237 female, mean age 4.2 years) a static renal scintigraphy was performed to assess the presence of permanent kidney damage. The history of vesicoureteral reflux and number of episodes of UTI was obtained. RESULTS: One hundred three children had a history of one episode of infection and the rest had recurrent infections. Permanent kidney damage was observed in 161 children (48%). This damage was observed in 39% of children of less than one year of age, in 43% of children aged 1 to 5 years of age and in 58% of children older than 5 years (p = 0.02). Sixty three percent of 122 children with vesicoureteral reflux had permanent kidney damage, compared with 27% of children without this condition (p < 0.001). Likewise, damage was observed in 36% of children with one episode of infection and 47% of children with recurrent infections (p < 0.01). No gender differences were observed. CONCLUSIONS: Vesicoureteral reflux, recurrence of UTI and age are associated with permanent renal damage in children with UTI.