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Khirurgiia 1975
Topics: Female; Humans; Kidney Calices; Kidney Pelvis; Middle Aged
PubMed: 1223461
DOI: No ID Found -
Acta Medica Croatica : Casopis... 2003Three patients with megacalycosis, a rare ren anomaly which includes dilatation of all ren calices, are presented. The symptoms of acute uroinfection were present in all...
Three patients with megacalycosis, a rare ren anomaly which includes dilatation of all ren calices, are presented. The symptoms of acute uroinfection were present in all three patients. The patients underwent clinical observation, laboratory testing, and renal ultrasound. Ultrasound revealed unilateral hydronephrosis in all three patients. Additional examinations included static and dynamic renal scintigraphy, voiding cystourethrography, and intravenous urography which pointed to unilateral megacalycosis. The symptoms of acute uroinfection were probably triggered by urinary stasis in dilated calices. Surgical intervention is not indicated in megacalycosis. The increasing incidence of uroinfection, urolithiasis and hematuria imposed the need of continuous follow-up in these patients.
Topics: Child, Preschool; Humans; Infant; Kidney Calices; Male; Radiography
PubMed: 12876871
DOI: No ID Found -
BMJ Case Reports 2010This report describes the diagnostic, morbid, anatomical and histopathological features of pyelocalyceal cysts with hydrotic nephritis of the kidney in a 3-year-old boy,...
This report describes the diagnostic, morbid, anatomical and histopathological features of pyelocalyceal cysts with hydrotic nephritis of the kidney in a 3-year-old boy, and discusses the pathogenesis. Calyceal cysts gave rise to a 'large blue cystic lobulated kidney' with microscopic changes in nephrons identifiable as 'hydrotic nephritic glomerulosclerosis'. Pelvic and calyceal cysts were identifiable by location, number, arrangement, and morbid anatomical and microscopic features of their lining walls. Such cysts may develop due to partial or complete obliterate adhesions at the uretero-pelvic and pyelocalyceal junctions. Patent calyceo-tubulonephric junctions in such cases may give rise to hydrotic nephritis. Pyelocalyceal cystic disease with hydrotic nephritis of the kidney needs to be distinguished from megacalycosis and hydronephrosis and deserves recognition. Observations in this case may provide the basis for future classifications of cystic renal diseases.
PubMed: 22427785
DOI: 10.1136/bcr.04.2009.1793 -
European Journal of Medical Genetics Sep 2015Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple...
Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities. The prognosis of SGS is very severe and death occurs generally within a few years after birth. In 2002, we reported 2 children with SGS with a follow-up of 3 years. They presented a very similar and particular phenotype associating distinctive facial gestalt, severe developmental delay, megacalycosis, progressive neurodegeneration, alacrimi, corneal hypoesthesia and deafness. Furthermore, temporal bone imaging revealed a tuning-fork malformation of the stapes. In 2010, Hoischen et al. identified in SGS patients pathogenic heterozygous de novo mutations in SETBP1. We sequenced SETBP1 in our patients and found the previously reported c.2608G>A (p.Gly870Ser) mutation in both children. Since 2002, one of our patients died at 6 years old and the other patient is still alive at 15 years old. Such a life expectancy has never been reported so far. We describe herein the follow up of the 2 children during 6 and 15 years respectively. This article gives further evidence of the implication of SETBP1 as the major gene of SGS, and reports the previously unseen natural evolution of the disease in a 15 years old patient.
Topics: Abnormalities, Multiple; Adolescent; Amino Acid Sequence; Brain; Carrier Proteins; Child; Craniofacial Abnormalities; Face; Female; Follow-Up Studies; Hand Deformities, Congenital; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Microcephaly; Molecular Sequence Data; Nails, Malformed; Nephrolithiasis; Nuclear Proteins; Pedigree; Prognosis; Psychomotor Disorders
PubMed: 26188272
DOI: 10.1016/j.ejmg.2015.07.004 -
Urology May 1981A variant between caudal and regression and Vater syndromes is presented which was significant anomalies of the genitourinary tract. The patient has a normal 46XX...
A variant between caudal and regression and Vater syndromes is presented which was significant anomalies of the genitourinary tract. The patient has a normal 46XX karyotype with the following urogenital anomalies: solitary pelvic kidney with megacalycosis, high ureteral bud or diverticulum, and ectopic insertion of the ureter into the proximal urethra; as well as, sacral agenesis, vaginal atresia, aberrant gonadal tissue, and uterine agenesis.
Topics: Abnormalities, Multiple; Bone and Bones; Child, Preschool; Digestive System Abnormalities; Female; Humans; Syndrome; Urogenital Abnormalities; Urography
PubMed: 7233664
DOI: 10.1016/0090-4295(81)90194-1 -
Minerva Pediatrica Jun 1992The authors describe one case of kidney staghorn lithiasis in a little patient 1 1/2 years old, as complication of a megacalycosis with associated pyelo-ureteral...
The authors describe one case of kidney staghorn lithiasis in a little patient 1 1/2 years old, as complication of a megacalycosis with associated pyelo-ureteral junction dysplasia. They underline the value of ultrasound both as a first examination and, particularly, in the follow up because of the non invasivity of the technique and the correct information about the persistence of calculi and dilatation.
Topics: Follow-Up Studies; Humans; Infant; Kidney; Kidney Calculi; Kidney Calices; Kidney Pelvis; Male; Radiography; Radionuclide Imaging; Ultrasonography
PubMed: 1635531
DOI: No ID Found