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Cells May 2023Turner syndrome (TS), a genetic disorder due to incomplete dosage compensation of X-linked genes, affects multiple organ systems, leading to hypogonadotropic... (Review)
Review
Turner syndrome (TS), a genetic disorder due to incomplete dosage compensation of X-linked genes, affects multiple organ systems, leading to hypogonadotropic hypogonadism, short stature, cardiovascular and vascular abnormalities, liver disease, renal abnormalities, brain abnormalities, and skeletal problems. Patients with TS experience premature ovarian failure with a rapid decline in ovarian function caused by germ cell depletion, and pregnancies carry a high risk of adverse maternal and fetal outcomes. Aortic abnormalities, heart defects, obesity, hypertension, and liver abnormalities, such as steatosis, steatohepatitis, biliary involvement, liver cirrhosis, and nodular regenerative hyperplasia, are commonly observed in patients with TS. The gene plays a crucial role in short stature and abnormal skeletal phenotype in patients with TS. Abnormal structure formation of the ureter and kidney is also common in patients with TS, and a non-mosaic 45,X karyotype is significantly associated with horseshoe kidneys. TS also affects brain structure and function. In this review, we explore various phenotypic and disease manifestations of TS in different organs, including the reproductive system, cardiovascular system, liver, kidneys, brain, and skeletal system.
Topics: Humans; Female; Pregnancy; Turner Syndrome; Heart Defects, Congenital; Primary Ovarian Insufficiency; Karyotype; Karyotyping; Liver Diseases; Short Stature Homeobox Protein
PubMed: 37408200
DOI: 10.3390/cells12101365 -
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 -
The Pan African Medical Journal 2018
Topics: Flank Pain; Fused Kidney; Humans; Male; Sepsis; Young Adult
PubMed: 30167053
DOI: 10.11604/pamj.2018.30.26.14899 -
Cureus Jun 2018Kidney development is a complex process that begins during the sixth to eighth weeks of life. Failure of ascent of the kidney will cause the kidney to remain in the... (Review)
Review
Kidney development is a complex process that begins during the sixth to eighth weeks of life. Failure of ascent of the kidney will cause the kidney to remain in the pelvis i.e., pelvic kidney. Here, we review this entity in detail and illustrate such embryological derailment. In most cases, a pelvic kidney is an incidental finding and is usually asymptomatic. Anatomic variations of the renal vasculature have been reported in cases of pelvic kidneys and these are highlighted in this review. Clinicians who treat patients for renal or pelvic disease or interpret images of the pelvis should be well informed of the anatomy and embryology of the pelvic kidney.
PubMed: 30109168
DOI: 10.7759/cureus.2775 -
International Journal of Surgery... Dec 2016Although most partial nephrectomies are performed as primary procedures in the elective or semi-imperative setting on kidneys with relatively normal anatomy, this is not... (Review)
Review
Although most partial nephrectomies are performed as primary procedures in the elective or semi-imperative setting on kidneys with relatively normal anatomy, this is not always the case. The indications for partial nephrectomy continue to expand and it is becoming particularly relevant in patients with single functioning kidneys, poor kidney function, anatomical anomalies and hereditary syndromes predisposing to multiple kidney cancers, such as Von Hippel-Lindau syndrome. These, along with previous abdominal surgery, pose surgical challenges. In this article we offer advice as to how to tackle these unusual situations. An ability to master the whole range of indications will allow the modern upper renal tract surgeon to offer partial nephrectomy to a wider range of patients.
Topics: Abdomen; Carcinoma, Renal Cell; Humans; Kidney; Kidney Neoplasms; Nephrectomy; Syndrome; von Hippel-Lindau Disease
PubMed: 27262880
DOI: 10.1016/j.ijsu.2016.05.070 -
Asian Journal of Urology Apr 2020Staghorn stones have always been a challenge for urologists, especially in some special situations, such as horseshoe kidney, ectopic kidney, paediatric kidney, and... (Review)
Review
Staghorn stones have always been a challenge for urologists, especially in some special situations, such as horseshoe kidney, ectopic kidney, paediatric kidney, and solitary kidney. The treatment of these staghorn stones must be aggressive because they can lead to renal function loss and serious complications. The gold-standard management for staghorn stones is surgical treatment with the aim of clearing the stones and preserving renal function. Treatment methods for staghorn stones have developed rapidly, such as extracorporeal shock wave lithotripsy, retrograde intrarenal surgery, percutaneous nephrolithotomy and laparoscopy and open surgery. Whether the standard procedures for staghorn stones can also apply to these stones in special situations is still not agreed upon. The decision should be made individually according to the circumstances of the patient. In this review, we evaluates the previous studies and comments on the management of staghorn stones under special situations in the hope of guiding the optimal choice for urologists.
PubMed: 32257806
DOI: 10.1016/j.ajur.2019.12.014