Response to letter to the editor re ‘The clinical manifestations of intermittent hydronephrosis and their relationship with renal function in pediatric patients’

RESUMOIntrodução: A Granulomatose de Wegener (GW) é uma vasculite rara e idiopática associada à presença do anticorpo Anticitoplasma de Neutrófilo (ANCA) que acomete, preferencialmente, os pequenos vasos. As manifestações clínicas são diversas, ocorrendo em mais de 90% dos casos, sintomas do trato respiratório. O comprometimento renal é tardio e preditor de mau prognóstico. Sua morbidade a médio e longo prazo inclui insuficiência renal crônica. A probabilidade de sucesso de manutenção da função renal depende da concentração sérica de creatinina ao início do tratamento, o que indica a importância do diagnóstico e terapêutica adequada precoces. Casuística: Relata-se o caso de uma paciente do sexo feminino, 61 anos, portadora de GW com comprometimento renal avançado à apresentação não precedido por sintomas pulmonares esperados. O tratamento imunossupressor associado a plasmaferese permitiu a melhora da função renal da paciente poupando-a de tornar-se dialítica- dependente. Discussão: A paciente iniciou a doença através de insuficiência renal assintomática, com valores de função renal compatíveis com o estágio mais avançado de doença renal crônica, ultrassonografia dos rins sem alterações compatíveis e sem os sintomas respiratórios esperados. Segundo a literatura, a combinação de imunossupressores e plasmaferese associa-se à recuperação renal em três meses com sobrevivência sem necessidade de diálise por 12 meses, no caso relatado, obteve-se tal resultado em 22 dias sem a necessidade de diálise após um ano. Conclusão: Devido ao diagnóstico precoce, o tratamento adequado foi instalado rapidamente proporcionando à paciente um aumento da expectativa e da qualidade de vida, evitando dependência de terapia renal substitutiva.Palavras-Chave: Granulomatose de Wegener, Plasmaferese, Doença renal crônica. ABSTRACTIntroduction: The Wegener's Granulomatosis (WG) is a rare and idiopathic vasculitis associated with the presence of Antineutrophil Cytoplasmic Antibody (ANCA), that affects, preferentially, the small vessels. The clinical manifestations are diverse, occurring in over 90% of cases, symptoms in the respiratory tract. Kidney damage is a late and bad prognostic predictor. Morbidity in the medium and long term includes chronic renal failure. The probability of renal function maintenance success depends on serum creatinine concentration at the beginning of treatment that indicates the importance of early diagnosis and deployment of an appropriate therapy. Case Report: We present a case of a 61-year-old female patient, carrier of GW with advanced renal impairment presentation, not preceded by expected pulmonary symptoms. The immunosuppressive treatment associated with plasmapheresis allowed the improvement of the patient’s renal function, saving her from becoming dialysis-dependent Discussion: The patient developed the disease through asymptomatic renal failure, renal function with values that are compatible with the most advanced stage of chronic kidney disease, ultrasound of the kidneys without compatible changes and without the expected respiratory symptoms. According to the literature, the combination of immunosuppressive drugs and plasmapheresis is associated with renal recovery in three months with survival without dialysis for 12 months. In this case, a result was obtained in 22 days without the need for dialysis after one year. Conclusion: Due to the early diagnosis, appropriate treatment was quickly installed giving the patient increased life expectancy and quality, preventing dependence on renal replacement therapy.Keywords: Wegener’s granulomatosis, Plasmapheresis, Chronic renal failure.

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766. Everything Old is New Again-A Case Series of New World Leishmaniasis in African Children in Portland, Maine

Open Forum Infectious Diseases ◽

10.1093/ofid/ofaa439.956 ◽

2020 ◽

Vol 7 (Supplement_1) ◽

pp. S428-S428

Author(s):

Jennifer Jubulis ◽

Amanda Goddard ◽

Elizabeth Seiverling ◽

Marc Kimball ◽

Carol A McCarthy

Keyword(s):

Latin America ◽

Cutaneous Leishmaniasis ◽

New World ◽

Pediatric Patients ◽

Data Extraction ◽

Clinical Manifestations ◽

Case Series ◽

Surgical Excision ◽

Skin Lesions ◽

Travel History

Abstract Background Leishmaniasis has many clinical manifestations and treatment regimens, dependent on species and host. Old world leishmaniasis is found primarily in Africa and Asia, and is associated with visceral disease, while new world disease, seen primarily in Latin America, is more commonly mucocutaneous. We present a case series of pediatric African patients with New World cutaneous leishmaniasis (NWCL). Methods Data extraction was performed via chart review, analyzing travel history, clinical presentation, diagnosis, and management in children with cutaneous leishmaniasis presenting to the pediatric infectious diseases clinic in Portland, ME. Biopsy specimens were sent to the federal CDC for identification by PCR and culture. Results Five cases of NWCL were diagnosed in pediatric patients in Maine from November 2018 through February 2020. Median age of patients was 10 years (range 1.5-15 years). Four cases (80%) occurred in children from Angola or Democratic Republic of Congo, arriving in Maine via Central/South America, with one case in a child from Rwanda who arrived in Maine via Texas. Three patients had multiple skin lesions and two had isolated facial lesions. Leishmaniasis was not initially suspected resulting in median time to diagnosis of 5 months (range 1-7 months). Four patients were initially treated with antibacterials for cellulitis and one was treated with griseofulvin. After no improvement, patients underwent biopsy with 2 patients diagnosed with L panamensis, 1 with L braziliensis, 1 with mixed infection (L panamensis and L mexicana), and 1 with Leishmania species only. One patient was managed with surgical excision, 3 with ketoconazole, and 1 was observed off therapy. Four patients were referred to otolaryngology. All continue to be followed in infectious disease clinic. Conclusion We present five cases of new world cutaneous leishmaniasis in African pediatric patients arriving to Maine through Latin America or Texas. Patients were diagnosed with cellulitis, tinea corporis or atopic dermatitis initially, underscoring importance of high index of suspicion in migrant patients. Detailed travel history and epidemiologic knowledge is essential to diagnosis, as patients may present with illness not congruent with country of origin. Optimal therapy remains unclear. Disclosures All Authors: No reported disclosures

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SAT0507 CLINICAL CHARACTERISTICS AND TREATMENT RESPONSE IN JUVENILE GOUT PATIENTS: A SINGLE CENTER EXPERIENCE

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2020-eular.4622 ◽

2020 ◽

Vol 79 (Suppl 1) ◽

pp. 1210.2-1210

Author(s):

S. Zheng ◽

P. Y. Lee ◽

Y. Huang ◽

Q. Huang ◽

S. Chen ◽

...

Keyword(s):

Renal Function ◽

Uric Acid ◽

Treatment Response ◽

Serum Uric Acid ◽

Clinical Characteristics ◽

Disease Onset ◽

Clinical Manifestations ◽

Joint Involvement ◽

Normal Body Mass Index ◽

Finger Joints

Background:The incidence of juvenile gout is increasing in China. The clinical manifestations of juvenile gout and treatment strategies to reduce uric acid levels in children are not well described due to the limited number of cases in the past.Objectives:We aim to describe the clinical characteristic of children with gout and study the treatment response to febuxostat.Methods:These studies were approved by the Institutional Review Board of Guangdong Second provincial General Hospital. We performed a retrospective analysis on 98 juvenile gout patients (age ≤ 18 years) evaluated in our hospital from Jan 2016 to Dec 2019. We analyzed clinical parameters, laboratory data and treatment response.Results:The average age of disease onset in children with gout was 15.2 ± 2.0 years and the youngest patient was 9 years old. The majority of patients were male (94/98) and mean serum uric acid (sUA) level were 705.8 ± 145.7 μmol/L (reference range <420 μmol/L). More than half of the cohort had normal body mass index (mean 24.7 ± 4.7 kg/m2; range 14.9 to 36.1 kg/m2). Renal function was generally normal in these children (serum creatinine 96.9 ± 17.8 μmol/L). In terms of joint manifestations, juvenile gout preferentially affected finger joints (29%), ankles (28%) and metatarsal joints (MTP; 20%). The most frequent sites of initial gout attack were ankles (45%), MTP (39%) and fingers (6%). In addition, tophi can occur in pediatric patients and typically develop in the finger joints (54%). Tophi was observed in about 25% of juvenile gout patients, typically within the first two years of disease onset (mean duration 1.7 ± 0. 9 years). We have found tophi in children as young as 10 years of age.For treatment for chronic hyperuricemia, 32 patients (32.7%) were started on febuxostat and 5 patients (5.1%) received allopurinol. A decrease in sUA was observed in both groups after the first month of treatment (febuxostat: baseline 690.4 ± 99.7 μmol/L to 482.7 ± 140.8 μmol/L vs. allopurinol: baseline 728.8 ±112.8 μmol/L to 565.0 ± 116.7 μmol/L, P=0.477). Serum uric acid of 6 patients in the febuxostat group (none in the allopurinol group) dropped below 360 μmol/L. There were no statistical differences in Cr, AST and ALT between the groups. During follow-up after 3 months, further decline in sUA level were observed in patients treated with febuxostat (409.5 ± 83.4, compared with baseline P<0.001).Conclusion:Juvenile gout has a different pattern of joint involvement and is less associated with elevated BMI compared to gout in adults. We show that febuxostat is effective in reducing uric acid levels in juvenile gout. These findings will help clinicians better understand the clinical manifestations and treatment response in juvenile gout.Figure 1Compared treatment response with allopurinol and febuxostatReferences:[1]Kishimoto K, Kobayashi R, Hori D, et al. Febuxostat as a Prophylaxis for Tumor Lysis Syndrome in Children with Hematological Malignancies. Anticancer Res. 2017 Oct;37(10):5845-5849.[2]Lu, C.C., et al. Clinical characteristics of and relationship between metabolic components and renal function among patients with early-onset juvenile tophaceous gout. J Rheumatol, 2014. 41(9): p. 1878-83.Disclosure of Interests:None declared

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Hypophosphatasia: A Unique Disorder of Bone Mineralization

International Journal of Molecular Sciences ◽

10.3390/ijms22094303 ◽

2021 ◽

Vol 22 (9) ◽

pp. 4303

Author(s):

Juan Miguel Villa-Suárez ◽

Cristina García-Fontana ◽

Francisco Andújar-Vera ◽

Sheila González-Salvatierra ◽

Tomás de Haro-Muñoz ◽

...

Keyword(s):

Alkaline Phosphatase ◽

Genetic Disease ◽

Therapeutic Strategy ◽

Pediatric Patients ◽

Bone Mineralization ◽

Clinical Manifestations ◽

Allelic Heterogeneity ◽

Specific Enzyme ◽

Inorganic Pyrophosphate ◽

Enzyme Replacement

Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits high clinical variability largely due to the high allelic heterogeneity of the ALPL gene. HPP is characterized by multisystemic complications, although the most common clinical manifestations are those that occur in the skeleton, muscles, and teeth. These complications are mainly due to the accumulation of inorganic pyrophosphate (PPi) and pyridoxal-5′-phosphate (PLP). It has been observed that the prevalence of mild forms of the disease is more than 40 times the prevalence of severe forms. Patients with HPP present at least one mutation in the ALPL gene. However, it is known that there are other causes that lead to decreased alkaline phosphatase (ALP) levels without mutations in the ALPL gene. Although the phenotype can be correlated with the genotype in HPP, the prediction of the phenotype from the genotype cannot be made with complete certainty. The availability of a specific enzyme replacement therapy for HPP undoubtedly represents an advance in therapeutic strategy, especially in severe forms of the disease in pediatric patients.

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AB0750 FUNCTIONAL CONDITION OF KIDNEYS IN THE LONG-TERM COURSE OF SLE IN ADOLESCENTS

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2021-eular.3930 ◽

2021 ◽

Vol 80 (Suppl 1) ◽

pp. 1403.2-1403

Author(s):

L. Bohmat ◽

N. Shevchenko ◽

I. Bessonova

Keyword(s):

Renal Function ◽

Lupus Nephritis ◽

Lupus Erythematosus ◽

Disease Duration ◽

Renal Involvement ◽

Clinical Manifestations ◽

Clinical Analysis ◽

Average Dose ◽

One Year

Background:Lupus nephritis is the most severe and adverse systemic lupus erythematosus (SLE) syndrome. According to modern recommendations, the clinical manifestations of active nephritis should be taken under medical control in 6 months after the start of the disease’s treatment1.Objectives:The aim of this study was to examine the functional status of the kidneys in children with SLE in the course of the disease for more than one year.Methods:The analysis included case histories of 43 patients with SLE, mostly females (41), aged 7 to 18 years (mean age 14.4 years) with disease duration of 4.75 ± 0.58 years of whom 22 were less than three years, 21 - more than three years. All children received corticosteroid therapy, at the time of the examination the average dose was 13.85 ± 1.86 mg per day in terms of prednisolone. The second component of therapy was azathioprine (average dose 97.61 ± 2.11 mg). All children received hydroxychloroquine (5 mg/kg per day).To determine the functional state of the kidneys a clinical analysis of urine, a study of the scope of specific gravity of urine during the day (Zymnytsky test), the content of creatinine and urea in serum to determine the glomerular filtration rate (GFR), the level of microalbuminuria per day were evaluated.Results:Renal involvement in the developed SLE occurred in 73.08% of patients. Among them, therapy during the first 6 months was considered quite effective in 58.06% of patients. It was found that in children with disease duration from one to three years proteinuria was registered in 68.18%, a decrease in GFR in 4.45% and hyperfiltration in 9.09%. In the group of children with duration of SLE more than three years revealed deeper changes in renal function; there was proteinuria in 90.47%, the frequency of GFR decreased was in 19.04%, a decrease of renal concentration function was in 14.28% of cases.Indicators of renal function in children with SLE depending on the duration of the disease (M ± m)IndicatorDuration of the diseasefrom 1 year to 3 years n = 22over 3 yearsn = 21Creatinine, mmol/l0,080 ± 0,0140,090 ± 0,018Мочевина, mmol/l5,66 ± 1,425,63 ± 1,61GFR, ml/min117,05 ± 19,68100,20 ± 18,98 *Microalbuminuria, mg/day24,41 ± 13,1334,73 ± 24,76Density min1,007 ± 0,0051,006 ± 0,005Density max1,024 ± 0,0051,019 ± 0,005 ***р<0,03;**р<0,01 the probability of differences when comparing between groupsConclusion:Long-term follow-up of children with SLE over one year reveals a prolongation of renal dysfunction, which worsens after three years, and is the basis for the development of irreversible renal impairment.References:[1]European evidence-based recommendations for the diagnosis and treatment of childhood-onset lupus nephritis: the SHARE initiative /Noortje Groot, Nienke de Graeff, Stephen D Marks et all. //Ann Rheum Dis. 2017 Dec;76(12):1965-1973.Disclosure of Interests:None declared

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The Specific Characteristics in Children with Obstructive Sleep Apnea and Cor Pulmonale

The Scientific World JOURNAL ◽

10.1100/2012/757283 ◽

2012 ◽

Vol 2012 ◽

pp. 1-6 ◽

Cited By ~ 9

Author(s):

Pi-Chang Lee ◽

Betau Hwang ◽

Wen-Jue Soong ◽

C. C. Laura Meng

Keyword(s):

Obstructive Sleep Apnea ◽

Sleep Apnea ◽

Pediatric Patients ◽

Pediatric Population ◽

Clinical Manifestations ◽

Cor Pulmonale ◽

Arousal Index ◽

Obstructive Sleep ◽

Hemodynamic Characteristics ◽

Pulmonary Arterial

Background.The prevalence of obstructive sleep apnea (OSA) in the pediatric population is currently estimated at 1-2% of all children. The purpose of this study was to investigate the clinical and hemodynamic characteristics in pediatric patients with cor pulmonale and OSA.Methods.Thirty children with the diagnosis of OSA were included. These patients consisted of 26 male and 4 female children with a mean age of 7 ± 4 years old. Five of those children were found to be associated with cor pulmonale, and 25 had OSA but without cor pulmonale.Results.The arousal index was much higher in children with OSA and cor pulmonale. The children with OSA and cor pulmonale had much lower mean and minimal oxygen saturation and a higher incidence of bradycardia events. All 5 patients with OSA and cor pulmonale underwent an adenotonsillectomy, and the pulmonary arterial pressure dropped significantly after the surgery.Conclusion.This study demonstrated that the OSA pediatric patients with cor pulmonale had the different clinical manifestations and hemodynamic characteristics from those without cor pulmonale. The adenotonsillectomy had excellent results in both the OSA pediatric patients with and without cor pulmonale.

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