PATRICIA TASCHNER GOLDENSTEIN
Projetos de Pesquisa
Unidades Organizacionais
LIM/16 - Laboratório de Fisiopatologia Renal, Hospital das Clínicas, Faculdade de Medicina
4 resultados
Resultados de Busca
Agora exibindo 1 - 4 de 4
- Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation(2018) GOLDENSTEIN, Patricia T.; NEVES, Precil D.; BALBO, Bruno E.; ELIAS, Rosilene M.; PEREIRA, Alexandre C.; ONUCHIC, Luiz F.; JUPPNER, Harald; JORGETTI, Vanda; ABENSUR, Hugo; MOYSES, Rosa MariaPrimary tumoral calcinosis is a rare autosomal recessive disorder characterized by ectopic calcified tumoral masses. Mutations in 3 genes (GALNT3, FGF23, and KL) have been linked to this human disorder. We describe a case of a 28-year-old man with a history of painful firm masses over his right and left gluteal region, right clavicle region, knees, and left elbow. Biochemical analysis disclosed hyperphosphatemia (phosphate, 9.0 mg/dL) and normocalcemia (calcium, 4.8 mg/dL), with normal kidney function and fractional excretion of phosphate of 3%. Parathyroid hormone was suppressed (15 pg/mL), associated with a low-normal 25-hydroxyvitamin D (26 ng/mL) concentration but high 1,25-dihydroxyvitamin D concentration (92 pg/mL). Serum intact FGF-23 (fibroblast growth factor 23) was undetectable. Genetic analysis revealed tumoral calcinosis due to a compound heterozygous mutation in FGF23, c. 201G>C (p. Gln67His) and c. 466C>T (p. Gln156*). Due to lack of other treatment options and because the patient was facing severe vascular complications, we initiated a daily hemodialysis program even in the setting of normal kidney function. This unusual therapeutic option successful controlled hyperphosphatemia and reduced metastatic tumoral lesions. This is a report of a new mutation in FGF23 in which dialysis was an effective treatment option for tumoral calcinosis with normal kidney function.
- Early postoperative parathormone sampling and prognosis after total parathyroidectomy in secondary hyperparathyroidism(2017) NASCIMENTO JÚNIOR, Climério Pereira do; BRESCIA, Marília D'Elboux Guimarães; CUSTÓDIO, Melani Ribeiro; MASSONI NETO, Ledo Mazzei; SILVEIRA, André Albuquerque; GOLDENSTEIN, Patrícia Taschner; ARAP, Sérgio Samir; JORGETTI, Vanda; MOYSES, Rosa Maria Affonso; MONTENEGRO, Fábio Luiz de MenezesAbstract Introduction: There is possibility of a supernumerary hyperplastic parathyroid gland in dialysis patients after total parathyroidectomy and autograft in dialysis patients. Objective: To test if the early postoperative measure of parathyroid hormone (PTH) can identify persistent hyperparathyroidism. Methods: A prospective cohort of dialysis patients submitted to parathyroidectomy had PTH measured up to one week after operation. The absolute value and the relative decrease were analyzed according to clinical outcome of satisfactory control of secondary hyperparathyroidism or persistence. Results: Of 51 cases, preoperative PTH varied from 425 to 6,964 pg/mL (median 2,103 pg/mL). Postoperatively, PTH was undetectable in 28 cases (54.9%). In eight individuals (15.7%) the PTH was lower than 16 pg/mL, in 10 (19.6%) the PTH values were between 16 and 87pg/mL, and in five (9.8%), PTH was higher than 87 pg/mL. Undetectable PTH was more common in patients with preoperative PTH below the median (p = 0.0002). There was a significant correlation between preoperative PTH and early postoperative PTH (Spearman R = 0.42, p = 0.002). A relative decrease superior to 95% was associated to satisfactory clinical outcome. A relative decrease less than 80% was associated to persistent disease, despite initial postoperative hypocalcemia. Conclusion: Measurement of PTH in the first days after parathyroidectomy in dialysis patients may suggest good clinical outcome if a decrease of at least 95% of the preoperative value is observed. Less than 80% PTH decrease is highly suggestive of residual hyperfunctioning parathyroid tissue with persistent hyperparathyroidism, and an early reintervention may be considered.
- Fractures in chronic kidney disease: pursuing the best screening and management(2015) GOLDENSTEIN, Patricia T.; JAMAL, Sophie A.; MOYSES, Rosa M. A.Purpose of review Osteoporotic fractures are common and cause increased sickness and death. Men and women with chronic kidney disease (CKD) are at particularly high risk of osteoporotic fractures. Currently, however, there are no guidelines concerning noninvasive methods to assess fracture risk in CKD. Further, approved treatments to prevent fractures in otherwise healthy men and women are only recommended for use with caution in those with CKD. This review focuses on the recent data that support the use of noninvasive methods to assess fracture risk in CKD and highlights new therapies that could be used in fracture prevention in CKD. Recent findings Data from prospective studies demonstrate that low bone mineral density predicts fracture in CKD patients. Post-hoc analyses demonstrate that agents approved for the treatment of postmenopausal osteoporosis (bisphosphonates, denosumab and teriparatide) when given to those with CKD are well tolerated and potentially efficacious with respect to fracture risk reduction. Summary To date, patients, and nephrologists taking care of them, have largely ignored fracture risk assessment and treatment in CKD. This should change given recent data. Further studies are needed, specifically bone histomorphometric studies, which will increase our understanding of CKD-mineral bone disease (MBD) pathophysiology, and randomized clinical trials of therapy in patients with CKD.
- Parathyroidectomy: better late than never(2015) ELIAS, Rosilene M.; GOLDENSTEIN, Patricia T.; MOYSES, Rosa M. A.