Surgical approach and clinical outcome of a deforming brown tumor at the maxilla in a patient with secondary hyperparathyroidism due to chronic renal failure / Abordagem cirúrgica de um tumor marrom deformante em maxila após paratireoidectomia em paciente com hiperparatireoidismo secundário à insuficiência renal crônica

Brown tumors are relatively uncommon but they are serious complications of renal osteodystrophy. We describe a 31-year-old woman with end-stage renal disease who had undergone hemodialysis for nine years and developed severe secondary hyperparathyroidism and a maxilla brown tumor despite increasing doses of oral calcitriol and calcium carbonate. The fast increase of the right maxillary bone tumor led to indication of parathyroidectomy (PTx). Despite normalization of serum PTH there was a slow regression of the mass and the patient still complained about her appearance after two-years of follow-up. Excision of the maxillary mass followed by recontouring of the maxilla was then performed, with adequate masticator rehabilitation.

Tumores marrons são relativamente incomuns mas constituem sérias complicações da osteodistrofia renal. Descrevemos o caso de uma paciente, 31 anos, com doença renal em estágio terminal, em hemodiálise há nove anos, que desenvolveu severo hiperparatireoidismo secundário com tumor marrom em maxila apesar de doses crescentes de calcitriol oral e carbonato de cálcio. O rápido aumento do tumor marrom em maxila levou à indicação de paratireoidectomia (PTx). Apesar da normalização dos níveis de PTH sérico, a regressão da massa tumoral foi lenta e a paciente questionava sobre sua aparência após dois anos de seguimento. A excisão da massa maxilar foi seguida da reconstrução com adequada função mastigatória.

A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene

Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifestating a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor (CaSR) plays an important role in the regulation of PTH secretion and calcium metabolism. Here we present a family with FBHH of an autosomal dominant inheritance. A heterozygous mutation of E297K (GAG -> AAG, exon 4) of CaSR gene was found in 3 family members. To our knowledge, it is the first confirmed case of FBHH with CaSR gene mutation in Korea.

In Vitro and In Vivo Effect of Parathyroid Hormone Analogue (1-14) Containing alpha-amino-iso-butyric Acid Residue (Aib)1,3

Firstly, parathyroid hormone (1-14) [PTH (1-14)] analogue containing various alpha-amino-iso-butyric acid residue (Aib) was synthesized by exchanging the 1st and 3rd Ala residues of alpha carbon of PTH (1-14). This analogue revealed to have the quite tight and stable alpha-helical structure using the nuclear magnetic resonance (NMR) analysis. The biological activities of these analogues were examined using a cAMP-generating assay in LLC-PK1 cell lines stably transfected with the wild-type human PTH1 receptor. Only the PTH analogue substituted with methyl moiety without acetylation showed significant cAMP generating action with 15.0 +/- 3.414 of EC50. Then, we used an ovariectomized rat model system to compare the in vivo effects of parathyroid hormone analogue with that of PTH (1-84). Daily subcutaneous administration of the unacetylated Aib1,3PTH (1-14) for 5 weeks in 30 nM/kg subcutaneously with positive control group receiving PTH (1-84) with 8 nM/ kg were performed. However, there was no significant change in spinal or femoral bone mineral density assessed by dual x-ray absorptiometry (DXA) in the Aib1,3PTH (1-14) group where definite increase of these parameters shown in the PTH (1-84) group (p < 0.001). Assessment of bone strength was evaluated with no significant differences among all groups. It was quite disappointing to see the actual discrepancies between the result of significant pharmacokinetic potency and the in vivo clinical effect of the Aib1,3PTH (1-14). However, there are several limitations to mention, such as the short duration of treatment, matter of dosage, and insufficient effect of tight alpha-helical structures with absence of C-terminus. In conclusion, our findings suggest that unacetylated Aib1,3PTH (1-14) did not exhibit any anabolic effects at the bones of ovariectomized rats.

Telopeptido carboxilo terminal del colageno tipo i ( beta-ctx ) serico y / compromiso oseo en la insuficiencia renal cronica / Serum beta-type I collagen carboxyterminal telopeptide ( beta-CTXs ) and bone involvement in chronic renal failure

La osteodistrofia renal (ODR) se caracteriza por alteraciones óseas. Se evaluaron métodos bioquímicosalternativos a la biopsia ósea en pacientes renales para determinar cambios rápidos delremodelamiento óseo en 43 pacientes predialíticos (PD) y 49 hemodializados (HD). Los PD presentaronfosfatemia, fosfatasa alcalina ósea (FAO), hormona paratiroidea intacta (PTHi) y beta-telopéptido carboxilo terminaldel colágeno tipo I (betaCTXs) mayores y clearence de creatinina (Ccr) menores (p<0.001) que los controles.La fosfatemia de HD fue más elevada, significativamente respecto de controles (p<0.0001); FAO, PTHi y betaCTXsfueron mayores a los otros dos grupos (p<0.0001). En ambos grupos renales betaCTXs y FAO correlacionaroncon PTHi (p<0.002 y p<0.0001, respectivamente) y entre sí (p<0.0001). Los PD con Ccr <40 ml/min presentaronPTHi, FAO y bCTXs (p<0.004, p<0.05 y p<0.001, respectivamente) más elevados que aquellos con Ccr>40ml/min. En PD, betaCTXs (p<0.05) y en HD tanto betaCTXs como FAO (p<0.0001) estaban aumentados respecto decontroles, aun con PTHi normal. Los incrementos mayores en los marcadores óseos se observaron en los pacientescon mayores niveles de PTHi (p<0.001). En conclusión; aun sin PTHi elevada existe un aumento deresorción ósea (posiblemente por otros factores) y la medición de betaCTXs sería una herramienta apropiada notraumática para detectar tempranamente alteraciones óseas por IR que permitiría tomar medidas preventivaspara evitar dicha pérdida. Asimismo, instalada la ODR determinar el aumento del remodelamiento sería sumamenteútil para identificar pacientes que requieran biopsia ósea. El reemplazo de la misma por beta-CTX séricodeberá esperar estudios que demuestren la correlación existente entre ambas metodologías.