ABSTRACT Renal hypouricemia (RHUC) is an autosomal recessive disease caused by the dysfunction of uric acid (UA) transporters in the proximal tubule causing increased fractional excretion of uric acid (FEUA). It is associated with mutations of SLC22A12 that codifies for URAT1, involved in RHUC type 1, or SLC2A9 which codifies for GLUT9 and is involved in RHUC type 2. We present the case of a man diagnosed with RHUC type 2 following hospitalization for acute kidney injury (AKI). A 43-year-old was hospitalized due to AKI after a 20 km walk at an outdoor temperature of 30°C. On the objective examination, he was dehydrated. Blood tests presented severe azotemia (creatininemia 16.43 mg/dL, uremia 254 mg/dL), UA 3.6 mg/dL, fosfatemia 6 mg/dL, Na 138 mEq/L, K 4.2 mEq/L, Cl 102 mEq/l, arterial gasometry with pH 7.35, pCO2 36 mmHg, HCO3 20 mmol/L, lactates 1.4 mmol/L. Urine test with proteinuria and unremarkable sediment. His kidneys had foci of microlithiasis. He started vigorous fluid therapy and sustained improvement in renal function was seen, with no need for renal function replacement therapy. The subsequent evaluation showed hypouricemia <1.5 mg/dL and FEUA of 32.5% (normal range 5.5%-8.5%). The molecular study identified the variant c.1221del p.(His407Glnfs*8) in the SLC2A9 gene in homozygosis, which established the diagnosis of RHUC type 2. This case highlights the importance of recognizing hereditary RHUC to prevent its manifestations, including exercise-induced AKI, nephrolithiasis, nephrocalcinosis, and more rarely, progression to stage 5 CKD. Its diagnosis should be considered in individuals with serum UA <2 mg/dL and elevated FEUA. Additionally, it should be confirmed by the identification of mutations in homozygous or compound heterozygous in SLC22A12 or SCL2A9. Treatment includes xanthine oxidoreductase inhibitors and adequacy of physical activity. The use of uricosuric antihypertensive drugs whose mechanism of action involves blocking the URAT1 transporter should be avoided.

Abstract Tuberculosis is rare in pediatric age but remains an issue in populations with risk factors. A new pediatric diagnosis frequently reflects a recent infection in the community. Herein is reported the case of an adolescent with prolonged but well-tolerated dyspnea, anorexia, fever, and night sweats, whose radiograph showed a massive pleural effusion. Pleural fluid analysis was compatible with pleural TB, and pleural biopsy confirmed the diagnosis. Pleural fluid polymerase chain reaction was later positive for Mycobacterium tuberculosis, and interferon-gamma release assay was also positive.

Resumo A tuberculose é uma doença rara em idade pediátrica, mas continua a ser um problema em populações de risco. Um diagnóstico de novo numa criança frequentemente traduz uma infeção recente na comunidade. É descrito o caso de um adolescente com dispneia, anorexia, febre e sudorese noturna prolongadas, mas bem toleradas, cuja radiografia evidenciou um derrame pleural de grandes dimensões. A análise do líquido pleural foi compatível com o diagnóstico de tuberculose pleural e a biópsia pleural permitiu confirmar o diagnóstico. A reação em cadeia da polimerase no líquido pleural foi posteriormente positiva para Mycobacterium tuberculosis e o teste de libertação de interferão gama foi igualmente positivo.

Primary membranous nephropathy (PMN) is the main cause of nephrotic syndrome in adults. The recognition that this kidney-specific disease is the result of an autoimmune process has changed diagnostic and therapeutic approaches. The determination of anti-phospholipase A2 receptor and thrombospondin type-1 domain containing 7A, when available, are part of the diagnostic and therapeutic monitoring workup. More recently, more putative antigens have been discovered. Treatment of PMN relies on optimal supportive care but immunosuppression is indicated in patients at risk of progressive kidney injury. Immunosuppression schemes commonly used are cyclophosphamide/steroids (modified Ponticelli), calcineurin inhibitors/steroids and, after the MENTOR trial, rituximab has also been considered a first-line agent in non-severe cases. However, even in the MENTOR trial, 40% of patients did not achieve remission. Rituximab-resistant PMN cases have been published. Many mechanisms have been implicated in rituximab resistance, such as the development of anti-drug antibodies, interindividual variability in drug levels, consumption of drug by internalization of the complex rituximab-CD20, the pool of autoreactive B-cells that is in circulation available for drug action, drug wasting in urine through proteinuria and also epitope spreading. Recognition and knowledge of some of these specific mechanisms of resistance has led to the use of other biologic agents. New monoclonal antibodies targeting CD20 have been developed and can be a rescue therapy for resistance PMN cases. However, as even these new-generation agents do not target memory plasma cells, therapies targeting these cells are promising. Inhibition of factors that activate autoreactive B-cells may also become an option. Additionally, a better understanding of the complement-mediated mechanisms of injury in PMN may bring to the pipeline novel biological therapies for this disease.

A puberdade precoce periférica pode ter várias etiologias, entre as quais a síndrome McCune-Albright (SMA). Trata-se de uma doença rara, definida por um mínimo de dois de três critérios clínicos: puberdade precoce, displasia fibrosa poliostótica (DFP) e manchas café-au-lait (CAL). Apresenta-se o caso de uma criança do sexo feminino com pubarca, acne e telarca intermitente desde os três anos de idade e menarca desde os seis. Dos exames complementares destacavam-se apenas alguns quistos foliculares transitórios e um avanço de idade óssea. O diagnóstico foi possível por ressonância magnética crânio-encefálica, que evidenciou a existência de DFP envolvendo os ossos do crânio e hemiface esquerda. Apenas mais tarde foi referido pelos pais que a criança tinha múltiplas manchas CAL no couro cabeludo desde o nascimento, evidenciando como neste caso a chave para o diagnóstico se encontrava escondida pelo cabelo. A SMA é uma doença rara cujo diagnóstico depende de um elevado índice de suspeição. As manchas CAL geralmente são as primeiras manifestações, mas podem facilmente passar despercebidas. A DFP pode afetar apenas alguns ossos, como os craniofaciais.

McCune-Albright syndrome (MAS) is one of the conditions causing precocious gonadotropin-independent puberty. It is a rare disease, characterized by two of the three following features: precocious puberty, polyostotic fibrous dysplasia (PFD), and café au lait (CAL) skin spots. Herein is presented the case of a girl with pubarche, acne, and transient thelarche since the age of three and menarche since the age of six years old. Besides transitory follicular cysts and advanced bone age, no other changes were found. Diagnosis was only established after brain magnetic resonance imaging showed fibrous dysplasia involving left craniofacial bones. The girl’s parents later mentioned that she had multiple café au lait skin spots on the scalp since birth, disclosing how the key diagnostic sign had been covered by the child’s hair. MAS is a rare disorder and diagnosis depends on a high index of suspicion. CAL skin spots are generally the first manifestation, but can easily go unnoticed. Additionally, PFD may only affect some bones, like craniofacial.

Overview: Despite the reduction in the rate of hysterectomies during the past years, it is still the second most common major surgical procedure performed among women. It has been common practice to counsel women who were planning hysterectomy, particularly in their mid-40s or older, to undergo concomitant bilateral salpingo-oophorectomy. However, this recommendation is now being replaced by consideration of ovarian conservation with bilateral salpingectomy (BS). Aims: To describe the trends regarding hysterectomies and concomitant adnexal surgery. Study Design: Single-center retrospective comparative study. Population: Women who underwent hysterectomy (2004 versus 2014). Methods: Data were analysed using STATA 13.1. Results: The overall number of hysterectomies decreased 28.5% (n=916 versus n=656). There was a change in the pattern of indications for hysterectomy: benign pathology decreased [79.4% versus 64.5% (p<0.001)] (mainly due to uterine fibroids) with a corresponding increase in hysterectomies due to urogenital prolapse [13.7% versus 23.6% p<0.001)] and malignant pathology [7.0% versus 11.9% (p<0.01)]. Regarding the surgical approach, there was a decrease in laparotomic route (80.9% versus 57.4% (p <0.001) with an increase in the vaginal [12.6% versus 28.7% (p<0.001)] and laparoscopic routes [6.6% versus 13.9% (p<0.001)]. In women with benign pathology, the rate of bilateral adnexectomy decreased from 69.4% to 53.3% (p<0.001) and the rate of BS increased from 0.9% to 16.5% (p<0.001). There was a reduction in intraoperative complications [4.3% versus 1.8% (p=0.006)], immediate postoperative complications [11.6% versus 7.0% (p=0.003)] and duration of hospitalizations [5.6±3.0 versus 4.1±2.4 days (p<0.001)]. Conclusion: The rate of hysterectomies decreased in the last decade, mainly due to the reduction in hysterectomies for uterine fibroids. We verified a significant shift towards ovarian conservation with increasingly concomitant BS. Considering ovarian carcinogenesis, the increase in prophylactic BS may have future impact on the reduction of ovarian cancer.