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Sindrome de Bartter: uma série de casos e revisão de literatura

Mon, 01 Jan 2024 00:00:00 GMT

Title: Sindrome de Bartter: uma série de casos e revisão de literatura Author(s)/Inventor(s): Lopes, Bruno Augusto Advisor: Gomes, Carlos Perez Abstract: Bartter Syndrome (BS) is a rare hereditary renal tubulopathy with an autosomal recessive inheritance pattern, characterized by loss-of-function genetic variants in transporter proteins in the epithelial cells of the thick ascending limb of the loop of Henle. Clinical manifestations due to increased natriuresis, hypokalemia, and metabolic alkalosis generally appear during childhood; however, few studies describe the follow-up of these patients in adulthood. This study aimed to describe the epidemiological, clinical, laboratory, and therapeutic characteristics in a case series of adult patients with BS. We included patients over 18 years of age diagnosed with BS since childhood, undergoing outpatient nephrology treatment through the Brazilian Unified Health System (SUS). We analyzed epidemiological and clinical data, serum laboratory tests (eGFR by CKD-EPI, Na, K, Ca, P, Mg, Cl, HCO₃, 25OH-vitamin D), urinary parameters (specific gravity and protein-to-creatinine ratio - PCR), as well as therapeutic regimens. Based on established criteria, we selected 6 patients with a diagnosis of BS (66% male, mean age 25.2±10.0 years, 100% non-white, BMI 22.0±3.6 kg/m², 16% with higher education, eGFR 107±39 mL/min/1.73 m²). The main clinical manifestations were: arterial hypotension in 100%, polyuria in 66%, growth and cognitive disorders in 50%, neuromuscular abnormalities in 33%, medullary nephrocalcinosis in 33%, and deafness and history of polyhydramnios in 16%. Regarding laboratory abnormalities, all patients presented with metabolic alkalosis (HCO₃ 36.1±2.8 mmol/L), hypokalemia (3.1±0.5 mmol/L), and hypochloremia (93.7±2.2 mmol/L). Hypomagnesemia was observed in 33%, and interestingly, 66% had hypophosphatemia (3.3±0.4 mg/dL), along with mild vitamin D deficiency (25OH-vitamin D 26±12.5 ng/mL). Urine specific gravity was low (1.007±0.004), and only one patient had an eGFR <60 mL/min/1.73 m² and a PCR >0.2. All patients were on potassium chloride and magnesium supplementation; 66% were using potassium-sparing diuretics, and 66% were on non-steroidal anti-inflammatory drugs (NSAIDs). In summary, our patients with BS showed metabolic alkalosis, mild hypokalemia, and decreased urinary concentrating ability. Most were treated with NSAIDs and had preserved renal function. We highlight the presence of hypophosphatemia, which is uncommon in BS and possibly related to vitamin D deficiency. Despite the limited availability of genotypic diagnosis for BS in Brazil's public health system (SUS), clinical management based on phenotype showed a favorable prognosis regarding renal function in adulthood. Publisher: Universidade Federal do Rio de Janeiro Type: Trabalho de conclusão de especialização

Gamopatia monoclonal com padrão de glomerulonefrite membranosa em paciente com síndrome nefrótica

Mon, 01 Jan 2024 00:00:00 GMT

Title: Gamopatia monoclonal com padrão de glomerulonefrite membranosa em paciente com síndrome nefrótica Author(s)/Inventor(s): Bruno, Camilla Bagno Advisor: Fontes, Ana Claudia Abstract: Monoclonal gammopathy of renal significance (MGRS) is a renal damage caused by a monoclonal immunoglobulin (Ig) in patients who do not meet the diagnostic criteria for hematologic neoplasia. Although this pathology was first described in 2012, it is a cause of important renal disease and should be included in the differential diagnosis of patients with altered renal function associated with proteinuria, with or without the presence of hematuria. Identification of the clone is important for targeted therapy. In the case reported, we have a patient with altered renal function and the presence of an IgG kappa peak in immunofixation of serum and urine proteins, but without criteria for multiple myeloma. After the result of a renal biopsy, the patient underwent treatment with hematology and nephrology. Publisher: Universidade Federal do Rio de Janeiro Type: Trabalho de conclusão de especialização

Resposta ao corticosteroide em um caso de nefrite tubulointesticial aguda por leptospirose

Mon, 01 Jan 2024 00:00:00 GMT

Title: Resposta ao corticosteroide em um caso de nefrite tubulointesticial aguda por leptospirose Author(s)/Inventor(s): Joia, Kívia da Silva Advisor: Bino, Fabrício Guimarães Abstract: This case report aims to present basis for future cases, in which the inffection caused by Leptospira associated with acute renal injury, that did not present successful development after appropriate treatment, may be related to Tubulointersticial Nephritis that requires corticotherapy. A patient with important epidemiological evidence and Weil's Syndrome classic clinical presentation, with positive sorogical tests for leptospirosis, developed acute renal injury that demanded intermittent hemodialysis in the acute phase of the disease. However, in spite of the satisfactory clinical evolution following antibiotic therapy and hemodynamic support, the patient still had need of renal replacement therapy to survive. Due the uncommon outcome, renal biopsy was performed leading to Tubulointerstitial nephritis diagnosis, mostly acute, that required corticotherapy. After the appropriate therapy,the patient had hemodialysis suspended and progressed to conservative management of the chronic kidney disease. Publisher: Universidade Federal do Rio de Janeiro Type: Trabalho de conclusão de especialização