Rare Diseases Symptoms Automatic Extraction

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

[kabuki syndrome]

To determine the frequency and types of renal malformations, and to evaluate renal function in a cohort of patients with Kabuki syndrome (KS).Renal ultrasound scans and plasma creatinine measurements were collected from a French cohort of 94 patients with genotyped KS. Renal function was evaluated based on the estimated glomerular filtration rate. A genotype-phenotype study was conducted for renal and urinary tract malformations.Renal malformations were present in 22% of cases, and urinary tract anomalies were present in 15%. Renal malformations were observed in 28% of the MLL2 mutation-positive group and in 0% of the MLL2 mutation-negative group (P = .015). No correlation was found between the presence or absence of renal or urinary tract malformations and the location or type of MLL2 mutation. Renal function was normal except for 1 patient with a MLL2 mutation diagnosed in the first days of life and severe renal disease due to unilateral renal agenesia and controlateral severe hypoplasia that progressed to the terminal stage at age 2 years.Our study emphasizes the need for ultrasound and renal function screening in children diagnosed with KS.

Diseases presenting "renal function" symptom

  • aniridia
  • cholangiocarcinoma
  • cystinuria
  • erdheim-chester disease
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • primary hyperoxaluria type 1
  • scrub typhus
  • systemic capillary leak syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • wolf-hirschhorn syndrome

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