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Preeclampsia (PE) is the most representative type of hypertensive disorders complicating pregnancy. It affects approximately 5%–9% of pregnancies and it is responsible for major maternal and perinatal morbidity and mortality. Since the etiology and pathogenesis of PE is still unknown, further research is needed. L-type calcium channels (LTCCs; Cav1) are one of the three major classes (Cav1–Cav3) of voltage-gated calcium channels. Blocking of LTCCs in vascular smooth muscle and the heart has been therapeutically used for decades to treat elevated blood pressure and cardiac ischemia. The human wild-type Cav1.3 channel α1-subunit (CACNA1D gene) mutation was reported in aldosterone-producing adenoma.
We delayed diagnosed severe postpartum PE in an early-onset hypertension Chinese female. To screen for the responsible gene mutation, 43 monogenic hypertension related pathogenic gene encoding area and flank area were tested with the sequencing technology in the proband, 5 other hypertension patients, as well as 4 normal individuals from the family.
A 29-years-old Chinese female who were diagnosed hypertension 10 years ago readmitted 2 days after the caesarean surgery. Her blood pressure was controlled by methyldopa 0.25g*3 /day during pregnancy and her blood and urine test results were within normal ranges during pregnancy. Her blood pressure and lab results showed no abnormal before and during the caesarean surgery. Two days after delivered a health boy, she complained of chest pain and had hypertension (160/100mmHg). Blood laboratory tests revealed significant raised Troponin I(2.00/mL), serum creatinine(511umol/L), blood uric acid(823umol/L), serum cystatin c, white blood cell count, C-reactive protein, prohormone brain natriuretic peptide (proBNP: 8516.00pg/ml) levels with urine protein 2+ and Urine red blood cells 3+. Renal biopsy showed mild mesangial proliferative glomerulonephritis with acute tubular injury. After treatment and undergoing oliguria stage and diuretic phase, her creatinine as well as other blood and urine test results returned to normal and blood pressure was controlled to 135-125/75-85mmHg using methyldopa 0.25g*3 /day. After reviewing this case, we delayed diagnosed her chronic hypertension with severe delayed postpartum PE which was not discovered by her obstetricians, cardiologists or nephrologists. We found a rare CACNA1D gene p.D307G missense mutation in the proband, so we tested 5 other hypertension patients, as well as 4 normal individuals from the family. We found among these 10 family members, nine are carrying this gene mutation with 6 hypertension patients, who were the proband, her mother, twin sister, younger brother and her mother’s two brothers.
Delayed Postpartum PE is rare but potentially life-threatening, it needs attention from medical professionals, not just obstetricians. CACNA1D gene p.D307G mutation could be a risk mutation of early-onset hypertension or preeclampsia, it might lead to new diagnostic or therapeutic approach of these diseases.