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Fetal and Pediatric Pathology 2014This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating... (Review)
Review
This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions.
Topics: Child; Humans; Kidney; Urogenital Abnormalities
PubMed: 25313840
DOI: 10.3109/15513815.2014.959678 -
PloS One 2022The incidence of hepatocellular carcinoma (HCC) in patients with Fontan-associated liver disease (i.e., FALD-HCC) has increased over time. However, the risk factors for...
AIMS
The incidence of hepatocellular carcinoma (HCC) in patients with Fontan-associated liver disease (i.e., FALD-HCC) has increased over time. However, the risk factors for HCC development remain unclear. Here, we compared the levels of non-invasive markers to the survival rate of FALD-HCC patients.
METHODS
From 2003 to 2021, 154 patients (66 men, 42.9%) developed liver disease after undergoing Fontan procedures. HCC was diagnosed in 15 (9.7%) (8 men, 53.3%) at a median age of 34 years (range, 21-45 years). We compared FALD-HCC and non-HCC cases; we generated marker level cutoffs using receiver operating characteristic curves. We sought to identify risk factors for HCC and mortality.
RESULTS
The incidence of HCC was 4.9% in FALD patients within 20 years after the Fontan procedure. Compared with non-HCC patients, FALD-HCC patients exhibited higher incidences of polysplenia and esophageal varices. At the time of HCC development, the hyaluronic acid (HA) level (p = 0.04) and the fibrosis-4 index (p = 0.02) were significantly higher in FALD-HCC patients than in non-HCC patients; the total bilirubin (T-BIL) level (p = 0.07) and the model for end-stage liver disease score [excluding the international normalized ratio (MELD-XI)] (p = 0.06) tended to be higher in FALD-HCC patients. Within approximately 20 years of the Fontan procedure, 10 patients died (survival rate, 96.9%). Kaplan-Meier curve analysis indicated that patients with T-BIL levels ≥ 2.2 mg/dL, HA levels ≥ 55.5 ng/mL, and MELD-XI scores ≥ 18.7 were at high risk of HCC, a generally poor prognosis, and both polysplenia and esophageal varices. Multivariate Cox regression analyses indicated that the complication of polysplenia [Hazard ratio (HR): 10.915] and a higher MELD-XI score (HR: 1.148, both p < 0.01) were independent risk factors for FALD-HCC.
CONCLUSIONS
The complication of polysplenia and a MELD-XI score may predict HCC development and mortality in FALD patients.
Topics: Adult; Biomarkers; Carcinoma, Hepatocellular; End Stage Liver Disease; Esophageal and Gastric Varices; Humans; Liver Neoplasms; Male; Middle Aged; Prognosis; Retrospective Studies; Risk Factors; Severity of Illness Index; Young Adult
PubMed: 35714161
DOI: 10.1371/journal.pone.0270230 -
International Journal of Cardiology Jan 2019
Topics: Child; Child, Preschool; Follow-Up Studies; Heart Defects, Congenital; Heart Septal Defects, Ventricular; Heterotaxy Syndrome; Humans; Spleen
PubMed: 29980371
DOI: 10.1016/j.ijcard.2018.06.075 -
La Revue de Medecine Interne Jun 2018
Topics: Aged; Diaphragmatic Eventration; Heterotaxy Syndrome; Humans; Lung; Male; Radiography, Thoracic; Thoracic Diseases; Wandering Spleen
PubMed: 28277264
DOI: 10.1016/j.revmed.2016.09.008 -
La Revue de Medecine Interne Sep 2021
Topics: Abdomen; Humans; Spleen
PubMed: 33446395
DOI: 10.1016/j.revmed.2020.12.003 -
Medicine, Science, and the Law Oct 2023The spleen is located in the left upper quadrant of the abdominal cavity and has both immunological and haematological functions. A variety of quite different entities... (Review)
Review
The spleen is located in the left upper quadrant of the abdominal cavity and has both immunological and haematological functions. A variety of quite different entities may be associated with sudden death due to splenic involvement. These range from simple traumatic disruption of the parenchyma of a normal spleen with marked intra-abdominal haemorrhage, to conditions such as malaria and infectious mononucleosis where splenomegaly predisposes to rupture. Haematological diseases such as malignancies and haemoglobinopathies may causes sudden death due to haemorrhage or red cell sequestration. Asplenia or polysplenia may be associated with significant congenital heart disease. Hyposplenia, both structural and functional, may also result in rapid demise from sometimes unusual bacterial infections. Vascular abnormalities causing death include entities such as splenic artery aneurysms. Thus, deaths from splenic pathology may be due to localised issues or may be part of more generalised disease. For this reason the autopsy in cases of splenic-associated deaths must be comprehensive and include special testing such as microbiological screening and/or haematologic/genetic evaluation.
Topics: Humans; Spleen; Death, Sudden; Autopsy
PubMed: 37537888
DOI: 10.1177/00258024231191828 -
Cureus Apr 2021Heterotaxy syndrome implies a discordance between placement of thoracic organs with respect to abdominal organs. A large number of these have associated congenital heart...
Heterotaxy syndrome implies a discordance between placement of thoracic organs with respect to abdominal organs. A large number of these have associated congenital heart defects. This syndrome is unique as every patient is different and can have any permutation and combination of symptoms. In our case, the five-year-old male child presented with complaints of abdominal distension, fever, and bluish discoloration of limbs with even mild exertion. Radiological evaluation was diagnosed with a large atrial septal defect, cardiomegaly, partial pulmonary venous circulation, multiple small spleens on the right side of body, a large midline liver, malrotated bowel, inferiorly displaced kidneys, and two hemiazygos veins. The echocardiography and electrocardiogram too were consistent with atrial septal defect and right ventricular strain pattern. The reasons for this highly variable pattern are rooted in the genetically complicated process of lateralization with a strong link to the copy number variations. Due to the variable patterns, it is more efficient to report all the findings utilizing a step-by-step process of commenting on each and every individual organ, instead of classifying them under different categories based on atrial isomerism. This is important as any other way of classification predisposes to a certain bias.
PubMed: 34094731
DOI: 10.7759/cureus.14766 -
Indian Journal of Pediatrics Dec 2015Thoraco-abdominal viscera have unique morphological asymmetry, unlike the body's external organs. Heterotaxy syndrome is a disorder in which there is a loss of normal... (Review)
Review
Thoraco-abdominal viscera have unique morphological asymmetry, unlike the body's external organs. Heterotaxy syndrome is a disorder in which there is a loss of normal left to right asymmetry of thoraco-abdominal viscera and their naturally proscribed spatial relationship. It has multiple anatomical alterations, culminating into physiological and hemodynamic consequences. It is divided into two groups on the basis of morphology of the two atrial appendages. These subgroups are - 1) Isomerism of right atrial appendage (asplenia syndrome); 2) Isomerism of left atrial appendage (polysplenia syndrome); Patients from group I, usually have severe cardiac malformations and present early. They may have duct dependent lesions and eventually may undergo Fontan surgery. However, extracardiac anomalies are more common in group II. All the patients must be evaluated in detail to rule out anomalies like gut-malrotation. Patients must be provided with special care for their susceptibility to infection due to absence of spleen or presence of splenic malfunction. Majority of these patients may have genetic link and may present in families. Hence, genetic evaluation is necessary before assuming long term outcome.
Topics: Congenital Abnormalities; Disease Management; Early Diagnosis; Hemodynamics; Heterotaxy Syndrome; Humans; Prognosis
PubMed: 26612104
DOI: 10.1007/s12098-015-1925-x -
Journal of the Belgian Society of... 2022A rare case of spontaneous splenic infarction with polysplenia is presented. The diagnosis was made by confirmed by enhanced computed tomography (CT), which showed...
A rare case of spontaneous splenic infarction with polysplenia is presented. The diagnosis was made by confirmed by enhanced computed tomography (CT), which showed multiple spleens in the left abdomen and one of the spleen showing low attenuation areas representing infarct. Polysplenia syndrome is a rare entity associated with heterotaxy syndromes. Radiological examinations help the diagnosis by identifying infarcts in the spleen and other abnormal organs in the chest and abdomen. We report a rare case of polysplenic syndrome with splenic infarction.
PubMed: 35814278
DOI: 10.5334/jbsr.2685