Enfermedad poliquística: a propósito de un caso

RESUMEN La enfermedad renal poliquística autosómica recesiva es una de las grandes causas de insuficiencia renal crónica en la población adulta. Se reporta el caso de un paciente con este padecimiento, que presentó, además, poliquistosis hepática y quistes pancreáticos, con escasas manifestaciones clínicas de la esfera renal y síntomas dispépticos; hígado y riñones muy aumentados de tamaño e irregulares, producto de los abundantes y grandes quistes; fosfatasa alcalina elevada y comprobación imagenológica de la enfermedad. Todo esto unido lo hace un caso infrecuente.

ABSTRACT Autosomal recessive polycystic renal disease is one of the great causes of chronic renal failure in the adult population. We present the case of a patient with this condition, who also had liver and pancreatic cysts, with few clinical manifestations of the renal sphere and dyspeptic symptoms; very enlarged and irregular liver and kidneys due to profuse and large cysts; high alkaline phosphatase and imaging checking of the disease. All of these together make it an infrequent case.

Coexistence of sclerosing polycystic adenosis and dysgenetic polycystic disease of parotid, Report of a case

Sclerosing polycystic adenosis (SPA) is a rare benign salivary gland lesion. Dysgenetic polycystic disease (DPD), which is a histologically similar lesion, may cause a lattice-like gross appearance with bilateral enlargement of the entire salivary glands. In this report, we present a case of SPA in the right parotid and coexistent DPD involving the both parotid.

Clinical phenotype and genotype analysis of infantile polycystic kidney:a case report / 临床儿科杂志

Objective To explore the clinical phenotype and genotype characteristics of infantile polycystic kidney. Method The clinical data of polycystic kidney disease in one infant were retrospectively analyzed, and the correlation between clinical phenotype and genotype was analyzed. Results In this infant the polycystic kidney was discoved in the fetal period, and shortness of breath, foaming at the mouth were present after birth. Abdominal magnetic resonance imaging indicated that there was medullary sponge kidney in both kidneys accompanied by mild effusion and cysts were found in the right kidney. Gene detection showed a missense mutation c.1123 C>T (Arg375Trp) of exon15 in PKHD1 gene. The exon31 of PKHD1 gene had a missense mutation c.3617G>T (Gly1206Val), which was a new missense mutation. The exon18 of PKD1 gene had a missense mutation c.7211G>A (Arg2404Gln), which is a complex heterozygous mutant of homozygote. All of the mutations are missense mutations. The infant was improved and discharged after treatment, and renal function was normal during 4 months of follow-up. Conclusion Gene detection can be used for early diagnosis of infantile polycystic kidney disease. Newborns with two missense mutations can survive, and exon31 mutation c.3617G>T (Gly1206Val) is a new finding.

Uso de sirolimus en pacientes pediátricos con poliquistosis renal autosómica dominante / Use of sirolimus in pediatric patients with autosomal dominant polycystic kidney disease

La poliquistosis renal autosómica dominante (PQRAD) se caracteriza por la aparición de quistes renales. Objetivos: Evaluar el crecimiento del volumen renal y de los quistes en los pacientes tratados con sirolimus, en comparación con aquellos que reciben el tratamiento habitual para la PQRAD; evaluar la aparición de efectos adversos relacionados con el uso de sirolimus; evaluar los cambios en la presión arterial, la proteinuria y el filtrado glomerular (FG) estimado. Materiales y métodos: Durante 24 meses se asignaron al azar 12 pacientes con PQRAD a un grupo de tratamiento con sirolimus (6 pacientes recibieron sirolimus 2 a 3 mg/m2/día, con un máximo de 5 mg/día) o a un grupo control (bajo tratamiento habitual). Resultados: De los 12 pacientes, los 6 pertenecientes al grupo de tratamiento con sirolimus tuvieron, al final del estudio, un aumento del volumen renal total y del volumen quístico del 13% y el 32%, respectivamente. En el grupo control, los 6 pacientes restantes tuvieron aumentos del 11% y el 23%, respectivamente. El FG fue normal para ambos grupos. La proteinuria para los grupos de sirolimus y control fue inicialmente 7.3 mg/m2/h y 6 mg/m2/h, respectivamente. Al finalizar el estudio era normal para ambos grupos. Tres pacientes tenían hipertensión arterial, pero a los 24 meses la presión arterial fue normal. Los efectos adversos observados fueron: anemia, diarrea y úlceras bucales. Conclusiones: El sirolimus no disminuyó el volumen renal ni el quístico. No hubo un aumento significativo en la proteinuria o una disminución en el FG. La media de la presión arterial se mantuvo normal.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by the develop-ment of kidney cysts. Objectives: To assess the growth of kidney and cystic volume in patients treated with rapamycin compared with patients receiving the usual treatment for ADPKD; assess the occurrence of adverse effects associated with the use of sirolimus; evaluate changes in blood pressure, proteinuria and estimated glomerular filtration rate (eGFR). Materials and methods: For a 24-month period, 12 patients with ADPKD were randomly allocated to a sirolimus group (6 patients, received rapamycin, 2-3 mg/m2/day, max. 5 mg/day) and the other 6 patients were allocated to a control group (receiving conventional treatment). Results: Out of the 12 patients, the 6 patients in the sirolimus group had a total increase in kidney and cystic volume of 13% and 32%, respectively, by the end of the study. In the control group, the other 6 patients had increases of 11% and 23%, respectively. eGFR was normal in both groups. Baseline proteinuria was 7.3 mg/m2/hour and 6 mg/m2/hour in the sirolimus- and control groups, respectively. By the end of the study, it was normal in both groups. Three patients had high blood pressure at baseline, but it was normalized at 24 months. Adverse effects were: anemia, diarr-hea, and mouth sores. Conclusions: Sirolimus did not reduce kidney and cystic volume. No significant increase in proteinuria or decrease in eGFR were observed. Mean blood pressure remained normal.

Polycystic Kidney Complicated by Cholangiocellular Carcinoma Presenting as Fever of Unknown Origin / General Medicine

We report the case of a 59-year-old man who presented with classical-type fever of unknown origin (FUO) during observation of hypertension and polycystic kidney. The presence of malignancy was suspected based on elevation of tumor marker levels. We examined the patient carefully and attempted diagnostic imaging, but definitive diagnosis was difficult due to the presence of multiple hepatic cysts. Hepatic biopsy detected adenocarcinoma, but identifying whether lesions were primary cholangiocellular carcinoma or metastases was difficult, and we were ultimately unable to diagnose the tumors as cholangiocellular carcinoma until autopsy. Polycystic kidney with hepatic cysts and complicated by cholangiocellular carcinoma is rare, but should be considered among the differential diagnosis for FUO, which itself is frequently encountered.

A Case Report of Renal Cell Carcinoma in a Polycystic Kidney: A case report

A forty-nine-year-old woman with polycystic disease had a right nephrectomy for what was preoperatively thought to be a polycystic disease, but at surgery turned out to be a tumor based on frozen section. Microscopic examination revealed papillary type, renal cell carcinoma with classical features of adult polycystic kidneys. Radiologic findings revealed multiple cysts in the liver. The clinical recognition of a carcinoma developing in polycystic kidneys is often difficult because of the presence of preexisting large renal masses and occasional hematuria. Renal cell carcinoma should be thought of when confronted with abdominal pain or back pain, severe hematuria, sudden dysuria or a new renal mass occurring in a patient with polycystic kidneys.

Multiple Intracranial Aneurysms Associated with Polycystic Disease: A Case Report

We have experienced a rare case of multiple intracranial aneurysms associated with polycystic kidney and polycystic liver, which were incidental findings after minor leakage. A 57-year-old female was admitted with the chief complaint of severe headache under the impression of subarachnoid hemorrhage due to rupture of the intracranial aneurysm(which were appeared as the right middle cerebral artery and A-com aneurysm). The brain CT scan showed subarachnoid hemorrhage in the right sylvian fissure and the right temporal lobe. On physical examination, 2FB hard irregular palpable mass was noted on the right costal margin. On neurological examination, her neck was mildly stiff and other signs were within normal limit. We checked abdominal sonography, abdominal CT scan and carotid angiography preoperatively, and reviewed the literature about polycystic disease associated with intracranial aneurysm and discussed about it.

A Clinical Observation on Congenital Renal Polycystic Disease / 대한비뇨기과학회지

The renal polycystic disease is familial, almost always bilateral and often involves liver and pancreas as well. It is the most common form of cystic kidneys it humans. Adult renal polycystic disease usually presents in the 4th or 5th decade as an abdominal mass or with signs and symptoms of hematuria, infection, hypertension or renal failure. A clinical observation was made on 13 congenital renal polycystic disease patients who were admitted to our department from June, 1968 to May, 1980. The results obtained were as follows 1. Of 2252 cases hospitalized, 13 cases were congenital renal polycystic disease, giving a ratio of 173:1. The age ranged from 22 to 58 years, and most favorable age was over 35 years (62%). 2. The chief complaints were palpable abdominal mass in 51%, pain in 38% and gross hematuria in 15%. 3. Hypertension was found in 85%, hepatic cyst in 23% and renal stone in 15%. 4. Familial tendency was noted in 54%. 5. Laboratory study showed anemia in 38%, azotemia in 31%. hematuria in 62%, proteinuria in 46% and pyuria in 38%. 6. Ultrasonography appears to be superior to excretory urography in diagnosis of the renal polycystic disease. On pyelography, increased intercalyceal length was exhibited, 11.0 (1.00cm on left kidney and 10.6 ( 1. 97 cm on right kidney. The cortical thickness was also increased to 5.0 ( 1. 54 cm on left kidney and 4.6 ( 0. 86cm on right kidney 7. The patients were managed by medical treatment in 46%, nephrectomy 23% and marsupialization of the cyst in 15%.

Polycystic Disease of Kidney(Two autopsy cases) / 대한비뇨기과학회지

Two autopsy cases of polycystic disease of kidney were reported, both female,31 and 61 years of age: gravida 2,and 7 respectively. The incidence among autopsies was 0.3%.Both cases were accompanied with congenital polycysts in liver. The blood pressure of the cases was slightly or moderately elevated and hearts were moderately hpertropic. Renal function were not considerably impaired. Clinically the correct diagnosis were subarachnoidal hemorrhage(by rupture of aneurism) in 1st case and uremia after right nephrectomy in 2nd case. Etiology of the condition was discussed.