Copyright
©The Author(s) 2021.
World J Clin Cases. Oct 6, 2021; 9(28): 8461-8469
Published online Oct 6, 2021. doi: 10.12998/wjcc.v9.i28.8461
Published online Oct 6, 2021. doi: 10.12998/wjcc.v9.i28.8461
Parameter | Proband | Mother | Father | Reference |
Height (cm) | 160 | 155 | 168 | - |
Weight (kg) | 44 | 54 | 72 | - |
BMI (kg/m²) | 17.19 ↓ | 22.5 | 25.5 | 18.5-24 |
WBC count, 109/L | 4.03 | 4.2 | 5.22 | 3.5-9.5 |
NEUT% | 0.60 | 0.63 | 0.65 | 40-75 |
LYM% | 32.8 | 35 | 34.0 | 20-50 |
HGB, g/L | 129.0 | 122 | 140.0 | 115-150 |
Platelet count,109/L | 254.0 | 267 | 289.0 | 125-350 |
RBC count, 1012/L | 4.54 | 4.20 | 4.83 | 3.8-5.1 |
Urine routine tests | ||||
Specific gravity | 1.010 ↓ | 1.020 | 1.020 | 1.015-1.030 |
Urine protein | - | - | - | - |
Urinary occult blood | 3+ | - | - | - |
Urine glucose | - | - | - | - |
Urine ketone bodies | - | - | - | - |
24 h UPE, g/d | 0.09 | 0.01 | 0.01 | 0-0.12 |
Immunoglobulin A, g/L | 1.36 | 1.58 | 2.04 | 0.7-4.0 |
Immunoglobulin G, g/L | 13 | 10 | 12 | 7-15 |
Immunoglobulin M, g/L | 1.36 | 1.52 | 1.47 | 0.4-2.6 |
Complement C3, g/L | 0.64 ↓ | 2.5 | 2.1 | 0.9-2.1 |
Complement C4, mg/dL | 12.70 ↓ | 22.10 | 24.50 | 16-38 |
Lambda, mg/dL | 475.00 | 528.00 | 601.00 | 313-723 |
Kappa, mg/dL | 975.00 | 876.00 | 930.00 | 629-1350 |
Fasting plasma glucose | 6.88↑ | 7.1↑ | 5.8 | 3.9-6.1 |
HBA1C, % | 6.7↑ | 5.4 | 5 | 4.0-6.0 |
Albumin, g/L | 48.40 | 45.30 | 48.00 | 40-55 |
Globulin, g/L | 28.40 | 25.17 | 26.09 | 20-40 |
Serum creatinine, umol/L | 112.3↑ | 56.9 | 69 | 45-105 |
eGFR (mL/min/1.73m²) | 59↓ | 110 | 110 | > 90 |
Serum uric acid, umol/L | 535.7↑ | 362.5 | 378.6 | 140-420 |
Cystatin-C, mg/L | 1.47↑ | 0.89 | 0.79 | 0-1.16 |
PTH, pg/mL | 79.40↑ | 44 | 60 | 12-65 |
Insulin autoantibody | ||||
IAA | - | - | - | - |
GADA | - | - | - | - |
ICA-40KD | - | - | - | - |
ICA-64KD | - | - | - | - |
ICA-120KD | - | - | - | - |
S/N | Sex | Age at diagnosis | Amino acid change | Clinical symptoms | Ref. |
1 | Male | 37 | p.ES36F | Diabetes mellitus, mild renal dysfunction; one cyst in the left kidney; impaired concentration function of the renal tubules | Wang et al[19] |
2 | Female | 30 | p.H336R | Diabetes mellitus; albuminuria; diabetic nephropthy, peripheral neuropathy, and diabetic retinopathy; lipid metabolism disorder; kidney stones | Wang et al[20] |
3 | Male | 39 | p.D221V | Diabetes mellitus and mild renal dysfunction; microalbuminuria; epididymal cysts and bilateral hydrocele testis | Wang et al[21] |
4 | Female | 11 | p.R165H | Low birth weight, diabetes mellitus, and microalbuminuria; renal structural abnormalities; pancreatic hypoplasia (lack of pancreatic body and tail); liver cysts | Wang et al[21] |
5 | Female | 65 | p.E260D | Diabetes mellitus; microalbuminuria; renal structural abnormalities; pancreatic hypoplasia (lack of pancreatic body and tail); liver cysts | Wang et al[21] |
6 | Female | 11 | p.G239E | Low birth weight and diabetes mellitus; elevated levels of serum creatinine, urea, liver enzymes, and uric acid; hyperosmolality; atrophy of the pancreas; agenesis of the left kidney combined with hydronephrosis, and multiple cysts in the right kidney | Luo et al[22] |
- Citation: Xiao TL, Zhang J, Liu L, Zhang B. Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report. World J Clin Cases 2021; 9(28): 8461-8469
- URL: https://www.wjgnet.com/2307-8960/full/v9/i28/8461.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v9.i28.8461