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Renal caliceal diverticuli-deafness syndrome

MedGen UID:
1676118
•Concept ID:
C5190738
•
Disease or Syndrome
Synonyms: Renal caliceal diverticuli and deafness syndrome; renal caliceal diverticuli-deafness syndrome; Renal caliceal diverticuli-hearing loss syndrome
SNOMED CT: Renal caliceal diverticuli and deafness syndrome (782942003)
 
Monarch Initiative: MONDO:0017281
Orphanet: ORPHA2838

Definition

A rare syndromic developmental defect during embryogenesis with characteristics of urinary tract and kidney anomalies such as renal pelvicaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRenal caliceal diverticuli-deafness syndrome

Recent clinical studies

Etiology

Kidney stones.
Khan SR, Pearle MS, Robertson WG, Gambaro G, Canales BK, Doizi S, Traxer O, Tiselius HG
Nat Rev Dis Primers 2016 Feb 25;2:16008. doi: 10.1038/nrdp.2016.8. PMID: 27188687Free PMC Article
A nephron-sparing surgical procedure for Fraley's syndrome. A case report.
Biocić M, Saraga M, Masković J, Vukić-Kosuljandić D, Saraga-Babić M, Budimir D
Eur J Pediatr Surg 2002 Oct;12(5):341-4. doi: 10.1055/s-2002-35953. PMID: 12469264
Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome.
Choyke PL, Siegel MJ, Oz O, Sotelo-Avila C, DeBaun MR
AJR Am J Roentgenol 1998 Sep;171(3):733-7. doi: 10.2214/ajr.171.3.9725306. PMID: 9725306
Pelvocalyceal thickening in HIV-associated nephropathy.
Wachsberg RH, Obolevich AT, Lasker N
Abdom Imaging 1995 Jul-Aug;20(4):371-5. doi: 10.1007/BF00203375. PMID: 7549747
Upper calyx reno-vascular obstruction in children: Fraley's syndrome.
Benz G, Willich E
Pediatr Radiol 1977;5(4):213-8. doi: 10.1007/BF00972180. PMID: 263509

Diagnosis

Robot-Assisted Laparoscopic Calyceo-Pyelostomy for Vascular Compression of the Upper Calyx (Fraley Syndrome).
Windisch O, Liernur T, Prunet S, Descotes JL, Fiard G, Long JA
Urology 2022 Sep;167:e4-e7. Epub 2022 Jun 7 doi: 10.1016/j.urology.2022.05.027. PMID: 35680048
Kidney stones.
Khan SR, Pearle MS, Robertson WG, Gambaro G, Canales BK, Doizi S, Traxer O, Tiselius HG
Nat Rev Dis Primers 2016 Feb 25;2:16008. doi: 10.1038/nrdp.2016.8. PMID: 27188687Free PMC Article
Severe intrarenal fibrosis, infundibular stenosis, renal cysts, and persistent perilobar nephrogenic rests in a patient with Beckwith-Wiedemann syndrome 27 years after diffuse nephroblastomatosis and Wilms tumor: natural progression or a consequence of treatment?
Kulkarni R, Wolf JS Jr, Padiyar N, Zuckerman L, Gera R, Scott-Emuakpor AB
J Pediatr Hematol Oncol 2002 Jun-Jul;24(5):389-93. doi: 10.1097/00043426-200206000-00013. PMID: 12142789
Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome.
Choyke PL, Siegel MJ, Oz O, Sotelo-Avila C, DeBaun MR
AJR Am J Roentgenol 1998 Sep;171(3):733-7. doi: 10.2214/ajr.171.3.9725306. PMID: 9725306
Sonographic and urographic correlation in Bardet-Biedl syndrome (formerly Laurence-Moon-Biedl syndrome).
Cramer B, Green J, Harnett J, Johnson GJ, McManamon P, Farid N, Pryse-Phillips W, Parfrey PS
Urol Radiol 1988;10(4):176-80. doi: 10.1007/BF02926564. PMID: 3072750

Therapy

Laparoscopic Nephron-Sparing Calycectomy for Treating Fraley's Syndrome.
Porpiglia F, Bertolo R, Checcucci E, Amparore D, Manfredi M, Fiori C
Urol Int 2018;100(2):134-138. Epub 2018 Jan 18 doi: 10.1159/000486628. PMID: 29346781
Kidney stones.
Khan SR, Pearle MS, Robertson WG, Gambaro G, Canales BK, Doizi S, Traxer O, Tiselius HG
Nat Rev Dis Primers 2016 Feb 25;2:16008. doi: 10.1038/nrdp.2016.8. PMID: 27188687Free PMC Article
Severe intrarenal fibrosis, infundibular stenosis, renal cysts, and persistent perilobar nephrogenic rests in a patient with Beckwith-Wiedemann syndrome 27 years after diffuse nephroblastomatosis and Wilms tumor: natural progression or a consequence of treatment?
Kulkarni R, Wolf JS Jr, Padiyar N, Zuckerman L, Gera R, Scott-Emuakpor AB
J Pediatr Hematol Oncol 2002 Jun-Jul;24(5):389-93. doi: 10.1097/00043426-200206000-00013. PMID: 12142789

Prognosis

Ureteropelvic junction obstruction and calyceal diverticulum in a child with Turner syndrome and horseshoe kidney.
Obermayr F, Szavay P, Schäfer J, Fuchs J
J Pediatr Urol 2010 Oct;6(5):463.e1-4. Epub 2010 Jun 8 doi: 10.1016/j.jpurol.2010.05.002. PMID: 20843761
Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome.
Choyke PL, Siegel MJ, Oz O, Sotelo-Avila C, DeBaun MR
AJR Am J Roentgenol 1998 Sep;171(3):733-7. doi: 10.2214/ajr.171.3.9725306. PMID: 9725306
Renal milk of calcium: contraindication to extracorporeal shockwave lithotripsy.
Heidenreich A, Vorreuther R, Krug B, Moul JW, Engelmann UH
Tech Urol 1996 Summer;2(2):102-7. PMID: 9118405

Clinical prediction guides

Pelvocalyceal thickening in HIV-associated nephropathy.
Wachsberg RH, Obolevich AT, Lasker N
Abdom Imaging 1995 Jul-Aug;20(4):371-5. doi: 10.1007/BF00203375. PMID: 7549747
Renal abnormalities in the Bardet-Biedl syndrome.
Tieder M, Levy M, Gubler MC, Gagnadoux MF, Broyer M
Int J Pediatr Nephrol 1982 Sep;3(3):199-203. PMID: 7141791
Results of operative treatment of Fraley's syndrome.
Fryczkowski M, Zaluczkowski K, Kobierska-Szczepaánska A, Rawski W
Int Urol Nephrol 1978;10(2):103-9. doi: 10.1007/BF02082129. PMID: 700940

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