Long term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD 5. Yet, 82% of adult patients have CKD 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients.

Background Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. In this cross-sectional study, we assessed PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies. Methods Clinical and laboratory data of 589 patients with Bartter and Gitelman syndrome were provided by members of the European Rare Kidney Diseases Reference Network (ERKNet) and the European Society for Pediatric Nephrology (ESPN). Results 285 patients with Bartter syndrome and 304 patients with Gitelman syndrome were included for analysis. Patients with Bartter syndrome type I & II had the highest median PTH level (7.5 pmol/l) and 56% had hyperparathyroidism (PTH >7.0 pmol/l). Serum calcium was slightly lower in Bartter syndrome type I & II patients with hyperparathyroidism (2.42 vs. 2.49 mmol/l; p = 0.038) compared to those with normal PTH levels and correlated inversely with PTH (rs -0.253; p = 0.009). Serum phosphate and urinary phosphate excretion did not correlate with PTH. Overall, 22% of patients had low serum phosphate levels (phosphate – standard deviation score < -2), with the highest prevalence in patients with Bartter syndrome type III (32%). Serum phosphate correlated with TmP/GFR (rs 0.699; p < 0.001), suggesting renal phosphate wasting. Conclusions Hyperparathyroidism is frequent in patients with Bartter syndrome type I & II. Low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears associated with renal phosphate wasting.

BackgroundAcute tubulointerstitial nephritis (TIN) is a significant cause of acute renal failure in paediatric and adult patients. There are no large paediatric series focusing on the aetiology, treatment and courses of acute TIN.Patients, design and settingWe collected retrospective clinical data from paediatric patients with acute biopsy-proven TIN by means of an online survey. Members of four professional societies were invited to participate.ResultsThirty-nine physicians from 18 countries responded. 171 patients with acute TIN were included (54% female, median age 12 years). The most frequent causes were tubulointerstitial nephritis and uveitis syndrome in 31% and drug-induced TIN in 30% (the majority of these caused by non-steroidal anti-inflammatory drugs). In 28% of patients, no initiating noxae were identified (idiopathic TIN). Median estimated glomerular filtration rate (eGFR) rose significantly from 31 at time of renal biopsy to 86 mL/min/1.73 m2 3–6 months later (p<0.001). After 3–6 months, eGFR normalised in 41% of patients (eGFR ≥90 mL/min/1.73 m2), with only 3% having severe or end-stage impairment of renal function (<30 mL/min/1.73 m2). 80% of patients received corticosteroid therapy. Median eGFR after 3–6 months did not differ between steroid-treated and steroid-untreated patients. Other immunosuppressants were used in 18% (n=31) of patients, 21 of whom received mycophenolate mofetil.ConclusionsDespite different aetiologies, acute paediatric TIN had a favourable outcome overall with 88% of patients showing no or mild impairment of eGFR after 3–6 months. Prospective randomised controlled trials are needed to evaluate the efficacy of glucocorticoid treatment in paediatric patients with acute TIN.

Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS.Methods: Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC.Results: The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiformneurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors.Conclusion: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.

A tuberculose cutânea é uma doença incomum, constituindo 1,5% de todas as formas de tuberculose. Na doença pulmonar e cutânea, as infeções causadas por Mycobacterium africanum e Mycobacterium tuberculosis podem ser clinicamente indistinguíveis. Um rapaz de 6 anos da Guiné-Bissau foi hospitalizado devido a uma úlcera pré-auricular direita com evolução de dois anos e linfadenopatia regional. O teste tuberculínico foi positivo e a radiografia de tórax revelou um nódulo hipotransparente no lobo pulmonar direito, com características sólidas na TAC. As biópsias da úlcera e da linfadenopatia revelaram infiltrado linfocítico com reação granulomatosa; o exame cultural e a PCR confirmaram infeção por Mycobacterium africanum. Foi realizado tratamento antibacilar durante 6 meses, com redução significativa da lesão. Nos países desenvolvidos é importante relembrar as várias formas de tuberculose cutânea, que se pode apresentar isoladamente ou em associação com outras formas de infeção. Nos doentes provenientes de áreas endémicas, um teste tuberculínico positivo deve levantar a suspeita desta entidade. PALAVRAS-CHAVE – Tuberculose cutânea; Tuberculose pulmonar; Mycobacterium africanum; Criança.

RESUMENEl Pectus Excavatum o tórax de zapatero es la malformación más frecuente de la cara anterior del tórax .Desde que el Profesor de Cirugía Sauerbruch en 1920 intervino por primera vez un paciente adulto-joven, la técnica quirúrgica abierta con tracción postoperatoria se continuó aplicando; hasta que; Ravitch en 1947 publica su experiencia eliminando la tracción toráxica post operatoria. Desde entonces se suceden variaciones en la técnica manteniendo el principio básico de resección de cartílagos y remodelaje de la posición esternal. El gran cambio se produce con la innovación de la cirugía toráxica guiada por fibra óptica; la Videotoracoscopia (VTC). (Palabras claves/Key words: (Videotoracoscopía/Videothoracoscopy; Pectus excavatum/Pectus excavatum).

A 16-year-old boy with a diagnosis of Parkes-Weber syndrome presented with a lower leg discrepancy of 3 cm for orthopaedic management. He had the triad of red skin lesion, lymphoedema and overgrowth of the right leg and multiple arteriovenous fistulae confirmed by angiography. Considering the risk of aggravating the vascular lesion, we decided conservative management of unequal limb lengths as long as this is well tolerated.

A 6-month-old girl with Beckwith-Wiedemann syndrome, multiple haemangiomas (axillary, laryngeal, pulmonary and hepatic) and diaphragmatic eventration was reported. All tumours responded to treatment with propranolol. The surgical correction of diaphragmatic eventration was crucial to a better outcome.