Nonimmune hydrops fetalis is becoming a predominant form of fetal hydrops due to the declining incidence of immune hydrops fetalis triggered by Rh isoimmunization. Infantile polycystic kidney appeared to be related to hydrops fetalis whether it is causal or merely coincidental and may represent another entry to differential diagnoses. Infantile polycystic kidney was diagnosed by an elevated maternal serum alpha-fetoprotein (AFP) value coupled with an ultrasonographic abnormality scanned as a multicystic mass with ascites in the fetal abdomen antenatally. This study presents a case of infantile polycystic kidney that resulted in a stillborn baby with hydrops fetalis and extensive placental calcification; it was the first case in Korea in which nonimmune hydrops fetalis was associated with infantile polycystic kidney in consecutive siblings by autosomal recessive inheritance in one family. In addition, this paper comprehensively reviews the incidence, etiology, prenatal diagnosis and proper management of nonimmune hydrops fetalis.
Adult ; Female ; Fetal Death/complications ; Fetal Diseases/*complications/pathology ; Human ; Hydrops Fetalis/*complications/pathology ; Pedigree ; Polycystic Kidney Diseases/*complications/pathology ; Pregnancy ; Recurrence

Polycystic kidney disease is a relatively uncommon finding of tuberous sclerosis. Furthermore, the renal insufficiency by the severe polycystic kidney disease is extremely rare in tuberous sclerosis. The patient was a 27-year-old man, complaining of generalized seizure and progressive abdominal distension. His clinical features were chracterized by epilepsy, mental retardation, skin abnormalities including adenoma sebaceum, shagreen patch and ash-leaf spots. Abdominal computed tomography demonstrated numerous variable sized cysts throughout both kidneys. Clinical and laboratory findings revealed chronic renal failure due to severe polycystic kidneys. On reviewing the literature, the present case is the first report of polycystic kidneys associated with tuberous sclerosis in Korea.
Adult ; Brain/pathology ; Human ; Magnetic Resonance Imaging ; Male ; Polycystic Kidney Diseases/*complications/pathology/physiopathology/ultrasonography ; Tomography, X-Ray Computed ; Tuberous Sclerosis/*complications/pathology/physiopathology/ultrasonography

Holoprosencephaly (HPE) and polycystic kidney disease (PKD) are genetically heterogeneous anomalies which can make up part of various syndromes or chromosomal anomalies. Due to the rapid lethality prognosis, early and precise prenatal diagnosis would be of great value. This case report describes extensive PKD involvement, already present in utero, in a patient with HPE and subdural effusion visible by MR imaging. The detailed anatomic information obtained by the MR imaging can guide the surgical planning and can aid antenatal counseling.
Adult ; Female ; Fetal Death ; Holoprosencephaly/complications/*diagnosis/embryology/pathology ; Humans ; Magnetic Resonance Imaging/*methods ; Polycystic Kidney Diseases/complications/*diagnosis/embryology/pathology ; Pregnancy ; Prenatal Diagnosis/*methods

OBJECTIVETo summarize the clinical characteristics, diagnosis, treatments and outcomes of perinatal autosomal recessive polycystic kidney disease.

METHODSThe clinical data of one case with infantile polycystic kidney disease diagnosed in perinatal stage and the reports of 11 cases seen in the past 15 years searched in Pubmed, OVID and Elsevier and CNKI, Wanfang database by using the polycystic kidney disease, infant, perinatal, autosomal recessive and case report as keyword were reviewed and analyzed.

RESULTSThe infant was characterized by huge kidneys, severe respiratory and renal compromise. The kidneys were symmetrically enlarged and highly echogenic by ultrasonographic examination and showed high-signal intensity on T2-weighted images by MRI. Histologic analysis showed pulmonary hypoplasia, numerous dilated and elongated tubular structures in the kidney and dilated intrahepatic biliary ducts. Among the 12 cases, 8 cases' presumptive diagnosis was made by prenatal ultrasound revealed enlarged kidneys and oligohydramnios. All cases suffered respiratory distress after birth, and 5 cases complicated pneumothorax. 6 cases died in neonatal stage because of respiratory failure.1 case died 2 m after birth because of renal failure. Five cases are alive and underwent dialysis, nephrectomy or renal transplant.

CONCLUSIONNewborn infants with perinatal autosomal recessive polycystic kidney disease often have poor outcome and died from respiratory and renal failure. Aggressive respiratory support and renal replacement therapy (including nephrectomy, dialysis and transplantation) may give these infants a favorable outcome.

Bronchopulmonary Dysplasia ; etiology ; pathology ; Fatal Outcome ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; diagnosis ; genetics ; pathology ; Kidney ; pathology ; Male ; Perinatology ; Polycystic Kidney, Autosomal Recessive ; complications ; diagnosis ; genetics ; pathology ; Renal Dialysis ; Renal Insufficiency ; etiology ; pathology ; Respiratory Insufficiency ; etiology ; pathology ; Retrospective Studies ; Ultrasonography

The pre-transplantation goal of the urologist is the optimization of urinary tract condition. Therefore, urologic surgery may be needed before or after renal transplantation. We analyzed the results of urologic surgery performed because of de novo urologic diseases. Between January 1986 and January 2001, 281 patients underwent renal transplantation, and 23 urologic surgical procedures were performed on 21 transplant recipients before or after renal transplantation because of de novo urologic diseases. By review the major reasons for urologic surgery in recipients were polycystic kidney diseases, vesicoureteral reflux, and dysfunctional voiding disorders. Nineteen surgical corrective procedures were done average 2.9 months before transplantation. The mortality rate was 10.5%. Four patients underwent urologic surgery at an average 57.5 months after transplantation. We highlight the fact that patients with uremia are vulnerable to surgical complications, and conclude that more intensive longterm urologic follow-ups should be conducted on recipients.
Adult ; Child ; Female ; Follow-Up Studies ; Humans ; Kidney/abnormalities ; Kidney Diseases/surgery/*therapy ; Kidney Transplantation/*methods ; Male ; Middle Aged ; Nephrectomy ; Polycystic Kidney Diseases/pathology/therapy ; Postoperative Complications ; Preoperative Care ; Research Support, Non-U.S. Gov't ; Time Factors ; Urologic Diseases/surgery ; Urologic Surgical Procedures/*methods ; Vesico-Ureteral Reflux/therapy