A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B
Abstract
:1. Introduction
2. Case Presentation
2.1. The Proband
2.2. The Proband’s Father
3. Genetic Testing
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Patients | Proband’s Father (VI-3) | Proband (V-1) | Proband’s Sister (V-2) | Reference Ranges | |
---|---|---|---|---|---|
Sex/age (year) | M/53 | M/16 | F/11 | ||
BMI (kg/m2) | 22.5 | 22.6 | 28.4 | 18.5–22.9 | |
HNF1B score | 14 | 14 | 10 | <8 | |
Renal cyst | bilateral | bilateral | bilateral | ||
Pancreatic abnormalities | Diffuse atrophic changes | Agenesis of dorsal pancreas | none | ||
Genitourinary tract defect | none | none | none | ||
Laboratory findings at age | at 15 y old | at 50 y old | at 16 y old | at 11 y old | |
FBS (mg/dL) | 398 | 228 | 301 | 115 | 1–120 |
HbA1c (%) | 18 | 7.5 | 15.4 | 6.1 | 4.5–5.6 |
BUN (mg/dL) | 15 | 28.9 | 13.9 | 13.9 | 6–20 |
Creatinine (mg/dL) | 1 | 5.52 | 1.03 | 0.58 | 0.5–1.2 |
eGFR (mL/min per 1.73 m2) | 115 | 10.8 | 107 | 141 | 90–120 |
AST/ALT (IU/L) | 15/21 | 16/14 | 25/12 | 17/15 | 8–40/5–41 |
Uric acid (mg/dL) | 2.4 | 3.9 | 2 | 6 | 2.4–7 |
Mg (mg/dL) | 1.5 | 2.3 | 1.6 | 1.8 | 1.6–2.6 |
Ketone body (mg/L) | 380.10 | 27.1 | 371.30 | 120 | 0–120 |
Ketone | negative | negative | negative | negative | negative |
Autoantibodies | negative | n/a | negative | negative | negative |
Insulin (AC) (uU/mL) | 0.90 | n/a | 0.80 | 1.5 | 1.9–23 |
Insulin (PC) (uU/mL) | 8 | n/a | 8.5 | 10 | 1.9–23 |
C-peptide (AC) (ng/mL) | 0.8 | 1.65 | 0.75 | 1.4 | 1.1–4.4 |
C-peptide (PC) (ng/mL) | 2 | 1.93 | 2.13 | 3.2 | 1.1–4.4 |
Urine sugar (mg/100mL) | 3+ | 2+ | 3+ | negative | negative |
Urine protein (mg/100mL) | negative | 2+ | negative | negative | negative |
Urine albumin/Cr ratio (ug/mg) | 10 | 200 | 6 | 2 | <30 |
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Han, J.Y.; Gwack, J.; Kim, T.Y.; Park, J. A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B. Int. J. Mol. Sci. 2024, 25, 9823. https://doi.org/10.3390/ijms25189823
Han JY, Gwack J, Kim TY, Park J. A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B. International Journal of Molecular Sciences. 2024; 25(18):9823. https://doi.org/10.3390/ijms25189823
Chicago/Turabian StyleHan, Ji Yoon, Jin Gwack, Tae Yun Kim, and Joonhong Park. 2024. "A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B" International Journal of Molecular Sciences 25, no. 18: 9823. https://doi.org/10.3390/ijms25189823