32 research outputs found
Giant Bilateral Renal Angiomyolipomas and Lymphangioleiomyomatosis Presenting after Two Successive Pregnancies Successfully Treated with Surgery and Rapamycin
We report the case of a 25-year-old woman who presented with abdominal and flank pain with two successive pregnancies and was diagnosed of giant bilateral renal AMLs and pulmonary LAM associated with TSC in the post-partum of her second pregnancy. This case illustrates that in women with TSC rapid growth from renal AMLs and development of LAM may occur with successive pregnancies. It also stresses the potential for preservation of renal function despite successive bilateral renal surgery of giant AMLs. Moreover, the treatment with a low-dose rapamycin may be an option for LAM treatment. Finally, a low-dose rapamycin may be considered as an adjuvant treatment together to kidney-sparing conservative surgery for renal AMLs
Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene: A case report
Background: Congenital nephrogenic diabetes insipidus (NDI) is a rare condition
characterized by severe polyuria, due to the inability of the kidneys to concentrate
urine in response to arginine vasopressin (AVP). In the majority of the cases, the
disease shows an X‐linked inherited pattern, although an autosomal recessive inheritance
was also observed.
Methods: We report a patient with a severe NDI diagnosed during the neonatal period.
Because the patient was female without a family history of congenital NDI, her
disease was thought to exhibit an autosomal recessive form.
Results: A full mutation analysis of AVP receptor 2 (AVPR2; MIM#300538) gene
showed no mutations. However, direct Sanger sequencing of the aquaporin 2 (AQP2)
revealed an apparently homozygous mutation at nucleotide position
NM_000486.5:c.374C>T (p.Thr125Met) in exon 2. Further customized multiplex
ligation‐dependent probe amplification (MLPA), single‐nucleotide polymorphism
(SNP) array analysis, and long‐range polymerase chain reaction (PCR) followed by
Sanger sequencing showed a heterozygous exonic deletion comprising exons 2, 3,
and partially 4 of AQP2.
Conclusion: This is the first case of a compound heterozygote patient with a missense
mutation involving NM_000486.5:exon2:c.374C>T (p.Thr125Met) and a
gross deletion of at least exons 2, 3, and partially 4 on the AQP2 to present with a
severe NDI phenotypeThis study was supported in part by grants
from the Research Activity Intensification
Program (Programa Intensificación
Actividad Investigadora) (IdiPAZ and
Agencia Laín‐Entralgo/CM) to R.P. ISCIII
RETIC REDINREN RD16/0009 FEDER
FUNDS, and (Programa Intensificación
Actividad Investigadora) (IdiPAZ and
FIBHULP) to J.N
Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2
Background: Autosomal dominant polycystic kidney disease (ADPKD) and neurofibromatosis type 1 (NF1) are both autosomal dominant disorders with a high rate of novel mutations. However, the two disorders have distinct and well-delineated genetic, biochemical, and clinical findings. Only a few cases of coexistence of ADPKD and NF1 in a single individual have been reported, but the possible implications of this association are unknown. Methods: We report an ADPKD male belonging to a family of several affected members in three generations associated with NF1 and optic pathway gliomas. The clinical diagnosis of ADPKD and NF1 was performed by several image techniques. Results: Linkage analysis of ADPKD family was consistent to the PKD2 locus by a nonsense mutation, yielding a truncated polycystin-2 by means of next-generation sequencing. The diagnosis of NF1 was confirmed by mutational analysis of this gene showing a 4-bp deletion, resulting in a truncated neurofibromin, as well. The impact of this association was investigated by analyzing putative genetic interactions and by comparing the evolution of renal size and function in the proband with his older brother with ADPKD without NF1 and with ADPKD cohorts. Conclusion: Despite the presence of both conditions there was not additive effect of NF1 and PKD2 in terms of the severity of tumor development and/or ADPKD progression.This study was financed in part by the Instituto de Salud Carlos III, the Ministerio de Ciencia y Innovación (EC08/00236) and the program for intensifying research activities (IdiPAZ and Agencia Lain Entralgo/CM) to R.P. or the program for intensifying (IdiPAZ and FIBHULP) to J.N. NF1 studies are supported by grants from Fundación Mutua Madrileña de Investigación Biomédica (FMM) and Asociación Española de Afectados de Neurofibromatosis. ISCIII RETIC REDINREN RD16/0009 FEDER Fund
Nephrotic Syndrome and Idiopathic Membranous Nephropathy Associated with Autosomal-Dominant Polycystic Kidney Disease
We report the case of a 38-year-old male with autosomal-dominant polycystic kidney disease (ADPKD) and concomitant nephrotic syndrome secondary to membranous nephropathy (MN). A 3-month course of prednisone 60 mg daily and losartan 100 mg daily resulted in resistance. Treatment with chlorambucil 0.2 mg/kg daily, low-dose prednisone, plus an angiotensin-converting enzyme inhibitor (ACEI) and an angiotensin II receptor blocker (ARB) for 6 weeks resulted in partial remission of his nephrotic syndrome for a duration of 10 months. After relapse of the nephrotic syndrome, a 13-month course of mycophenolate mofetil (MFM) 2 g daily and low-dose prednisone produced complete remission for 44 months. After a new relapse, a second 24-month course of MFM and low-dose prednisone produced partial to complete remission of proteinuria with preservation of renal function. Thirty-six months after MFM withdrawal, complete remission of nephrotic-range proteinuria was maintained and renal function was preserved. This case supports the idea that renal biopsy is needed for ADPKD patients with nephrotic-range proteinuria in order to exclude coexisting glomerular disease and for appropriate treatment/prevention of renal function deterioration. To the best of our knowledge, this is the first reported case of nephrotic syndrome due to MN in a patient with ADPKD treated with MFM, with remission of proteinuria and preservation of renal function after more than 10 years. Findings in this patient also suggest that MFM might reduce cystic cell proliferation and fibrosis, preventing progressive renal scarring with preservation of renal function
Points and areas prone to earthquake-induced landslides in the CARM. Base information for Civil Protection
Se presenta un trabajo de aplicación para la definición de posibles escenarios de catástrofe sísmica, donde deben de incorporarse los movimientos de ladera, como información de base para la última revisión del Plan Especial de Protección Civil ante el Riesgo Sísmico en la Región de Murcia (SISMIMUR). Para ello se ha confeccionado un inventario adecuado y un mapa a escala 1:200.000 que contiene los puntos y zonas más susceptibles a este tipo de fenómenos inducidos por los terremotos en la CARM que pueden afectar a núcleos urbanos, infraestructuras lineales (carreteras y ferrocarriles), balsas mineras, cursos de agua y cuerpos de agua (embalses y lagos). En el análisis solo se han seleccionado los puntos definidos como desprendimientos s.l., tipología predominante en la zona de estudio y de mayores efectos de cara al escenario de la catástrofe sísmica posible. Aunque en la mayoría de las infraestructuras evaluadas están alejadas de movimientos de ladera inventariados, hay núcleos de población importantes como Lorca, Águilas o Caravaca de la Cruz, entre otras, así como algunos tramos del creciente entramado urbano del litoral murciano con zonas de susceptibilidad alta. El tramo más susceptible sería el situado en la carretera RM-520, entre Archena y Abarán.In this work, we present a methodology to define potential seismic scenarios including seismic-induced landslides as background information for the latest revision of the “Plan Especial de Protección Civil ante el Riesgo Sísmico en la Región de Murcia (SISMIMUR)”. We first made an adequate inventory and a map at 1:200,000 scale containing the points and areas more susceptible to this type of seismic-induced effects in the CARM which may affect urban areas, lifelines(roads and railways), tailing dams, waterways and bodies of water (reservoirs and lakes). For this analysis, only points defined as rockfalls s.l. have been selected, since they are the predominant type of landslide in the area and it is associated to the greatest effects regarding a potential seismic scenario. Although most of the infrastructures evaluated are far from the inventoried landslides, some areas with high susceptibility have been identified near major population centers, such as Lorca, Águilas, Caravaca de la Cruz, etc., and near of some growing urban fabric areas located along the Murcia province coast. According to this study, the most vulnerable section would be located in the RM-520 road between Archena and Abarán
Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: A Spanish expanded access trial
Background: Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/embolization. We provide further insight into everolimus safety and efficacy for TSC-related AML. Methods: This was a Spanish expanded access trial including patients aged ≥18 years with TSC-related AML. They received 10 mg everolimus once daily until AML progression, unacceptable toxicity, death/withdrawal, commercialisation for TSC-related AML, or 1 year after first patient enrolment. The primary outcome was dose-limiting safety according to grade 3/4 adverse events, serious adverse events, or adverse events leading to treatment modification. Secondary outcomes included overall safety and efficacy. Results: Nineteen patients were enrolled and received everolimus for a median of 6.6 (5.3-10.9) months. Eleven (57.9 %) remained on 10 mg/day throughout the study and eight (42.1 %) required treatment modifications due to adverse events; none permanently discontinued treatment. Adverse events were overall grade 1/2 and most frequently included aphthous stomatitis/mucosal inflammation, hypercholesterolaemia/hypertriglyceridaemia, urinary tract infection, hypertension, dermatitis acneiform, and insomnia. Four (21.1 %) patients experienced grade 3 adverse events, none was grade 4, and only one (5.3 %) was serious (pneumonia). AML volume was reduced ≥30 % in 11 (57.9 %) patients and ≥50 % in 9 (47.4 %); none progressed. Right and left kidney sizes decreased in 16 and 14 patients, respectively. Conclusions: These findings support the benefit of everolimus for renal AML due to a manageable safety profile accompanied by reduced AML and kidney volumes. Trial registration: EudraCT number 2012-005397-63; date of registration 22 Nov 2012.This work was funded by Novartis Farmacéutica S.A., which was involved in
study design, data analysis and interpretation, and writing of the manuscrip
New GOLD classification: longitudinal data on group assignment
Rationale: Little is known about the longitudinal changes associated with using the 2013 update of the
multidimensional GOLD strategy for chronic obstructive pulmonary disease (COPD).
Objective: To determine the COPD patient distribution of the new GOLD proposal and evaluate how this
classification changes over one year compared with the previous GOLD staging based on spirometry only.
Methods: We analyzed data from the CHAIN study, a multicenter observational Spanish cohort of COPD patients
who are monitored annually. Categories were defined according to the proposed GOLD: FEV1%, mMRC dyspnea,
COPD Assessment Test (CAT), Clinical COPD Questionnaire (CCQ), and exacerbations-hospitalizations. One-year
follow-up information was available for all variables except CCQ data.
Results: At baseline, 828 stable COPD patients were evaluated. On the basis of mMRC dyspnea versus CAT, the
patients were distributed as follows: 38.2% vs. 27.2% in group A, 17.6% vs. 28.3% in group B, 15.8% vs. 12.9% in
group C, and 28.4% vs. 31.6% in group D. Information was available for 526 patients at one year: 64.2% of patients
remained in the same group but groups C and D show different degrees of variability. The annual progression by
group was mainly associated with one-year changes in CAT scores (RR, 1.138; 95%CI: 1.074-1.206) and BODE index
values (RR, 2.012; 95%CI: 1.487-2.722).
Conclusions: In the new GOLD grading classification, the type of tool used to determine the level of symptoms
can substantially alter the group assignment. A change in category after one year was associated with longitudinal
changes in the CAT and BODE index
Efficacy of the creation of a patient school program in the detection of needs in patients with autosomal dominant polycystic kidney disease
Introducción: La Poliquistosis Renal Autosómica Dominante es una enfermedad renal crónica responsable del 10% de los casos de insuficiencia renal terminal. La participación y los grupos de apoyo entre iguales son herramientas que mejoran el bienestar, evitando complicaciones y retrasando el avance de la enfermedad. Objetivos: Detectar necesidades informativas, así como recursos de apoyo, en este grupo de pacientes mediante la puesta en marcha de una Escuela de Pacientes con poliquistosis renal autosómica dominante.
Material y Método: Se utilizó un diseño mixto (cuantitativo y cualitativo). El estudio se desarrolló mediante cuatro fases: 1) Grupo focal: pacientes con poliquistosis renal y sus cuidadores; 2) Selección de los pacientes expertos; 3) Elaboración de los contenidos del programa de la Escuela de pacientes con poliquitstosis renal autosómica dominante; 4) Pilotaje del programa.
Resultados: Se detectaron necesidades de información referentes al tratamiento oral y al afrontamiento de la poliquistosis renal que no están cubiertas por los equipos de nefrología.
Conclusiones: La Escuela de Pacientes ha demostrado ser una herramienta útil para detectar necesidades y recursos en pacientes con poliquistosis renal autosómica dominante que han de enfrentarse a una enfermedad crónica donde se requiere la participación del paciente para garantizar la adhesión al tratamiento.Introduction: Autosomal Dominant Polycystic Kidney Disease is a chronic kidney disease responsible for 10% of cases of end-stage renal failure. Participation and peer support groups are tools that improve well-being, avoiding complications and delaying disease progression.
Objectives: To detect information needs, as well as support resources, in patients with autosomal dominant polycystic kidney disease trough a Patient School.
Material and Method: A mixed design (quantitative and qualitative) was used. The study was developed through four phases: 1) Focus group: patients with autosomal dominant polycystic kidney disease and their caregivers; 2) Selection of expert patients; 3) Preparation of the contents of the program of the Patient School with autosomal dominant polycystic kidney disease; 4) Piloting the program.
Results: Information needs regarding oral treatment and coping with autosomal dominant polycystic kidney disease were detected, which are not covered by nephrology teams.
Conclusions: Patients School has proven to be a useful tool to detect needs and resources in patients with autosomal dominant polycystic kidney disease who have to face a chronic disease where patient participation is required to ensure adherence to treatmen