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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : -21 مورد

Clinical characteristics of heterozygous HNF1B variants (MAGIC-LUCID)

Clinical characteristics of heterozygous HNF1B variants (MAGIC-LUCID)
Clinical feature Evaluation and monitoring Interventions
Congenital anomalies of the kidney and urinary tract (CAKUT)
  • Comprehensive metabolic panel, repeated annually
  • Kidney ultrasound, repeat annually if cysts are present
  • Uterine ultrasound when age-appropriate
  • Urology and pediatric nephrology referral, depending on anomalies
  • Urology or gynecology referral for uterine anomalies
Chronic kidney disease with a bland urinary sediment
  • Estimated GFR, repeated annually or more frequently if decreasing
  • ACE inhibitor or ARB for hypertension
  • Avoid nephrotoxic medications
Maturity onset diabetes of youth (MODY) type 5
  • Hemoglobin A1C, repeated annually
  • Oral therapy such as a sulfonylurea may be used initially
  • Insulin may be required with disease progression
  • Standard diabetes care
Hypomagnesemia
  • Serum magnesium level, repeated annually
  • If hypomagnesemia is present, baseline ECG to evaluate QTc
  • Magnesium supplementation as needed
Hyperuricemia and gout
  • Serum urate level, repeated annually
  • Clinical evaluation for gout as needed
  • Allopurinol for secondary prevention if gout develops
Increased LFTs
  • LFTs, repeated annually
  • If LFTs are elevated, abdominal US for liver imaging
  • No intervention needed

Individuals with a germline pathogenic variant in HNF1B may have a number of clinical features that determine interventions and monitoring. Penetrance (likelihood of manifestations) and expressivity (constellation of manifestations) are variable, even within the same family. The mnemonic MAGIC-LUCID illustrates these features.[1]

  • Magnesium – Hypomagnesemia due to magnesium leak in the kidney
  • Autosomal dominant
  • Genitourinary tract – Abnormalities such as bicornuate uterus
  • Inherited
  • CAKUT – Congenital anomalies of the urinary tract, including cystic kidneys, solitary kidney, hypoplastic kidney, bicornate uterus
  • Liver test abnormalities – Mild, asymptomatic elevations of AST, ALT, and alkaline phosphatase
  • Uric acid elevation – Gout may develop in young adulthood
  • Chronic kidney disease – Variable rate of progression, with some individuals developing end-stage kidney disease
  • Incomplete penetrance – Some or none of the clinical features may be present in affected family members
  • Diabetes – Maturity Onset Diabetes of Youth (MODY) type 5

Individuals with 17q12 deletion syndrome have additional abnormalities as described in UpToDate.

ACE: angiotensin converting enzyme; ALT: alanine aminotransferase; ARB: angiotensin II receptor blocker; AST: aspartate aminotransferase; ECG: electrocardiogram; GFR: glomerular filtration rate; LFTs: liver function tests; QTc: corrected QT interval; US: ultrasound.
Source:
  1. The MAGIC-LUCID mnemonic is reprinted by permission from Springer: Pediatric Nephrology. Bleyer AJ, Wolf MT, Kidd KO et al. Autosomal dominant tubulointerstitial kidney disease: more than just HNF1b. Pediatr Nephrol 2022; 37:933. https://www.springer.com/journal/467.
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