Medical news September 6: Discovered to have genetic kidney disease despite being completely healthy

15-year-old male student discovered to have genetic kidney disease despite being completely healthy

The male student from NHNA said that he came to the clinic when he was in a stable health condition, with no unusual symptoms. He himself had never had any kidney function tests before, such as abdominal ultrasound, urine test or blood creatinine measurement.

People with a family history of polycystic kidney disease should have an abdominal ultrasound for screening. In people aged 15 to 39, if three or more cysts are found in both kidneys, the disease can be diagnosed.

However, through family history, the doctor discovered that she had a very clear genetic factor. When her grandmother was diagnosed with polycystic kidney disease at the age of 60, her mother discovered she had the disease at the age of 35, but due to her subjectivity in not following treatment, within just 5 years, it progressed to end-stage chronic kidney disease, requiring dialysis and waiting for a kidney transplant.

My aunt (mother's younger sister) was also diagnosed with the disease at the age of 33. My older sister is now 17 years old and has had an abdominal ultrasound but no signs of polycystic kidney disease have been detected at this time.

Based on information from family pedigree and genetic risk factors, Dr. Nguyen Thi My Le, Internal Medicine specialist, MEDLATEC Go Vap General Clinic, prescribed screening for hereditary polycystic kidney disease for A.

Abdominal ultrasound results showed multiple cysts in both kidneys, with more than 7 cysts in the left kidney and more than 10 cysts in the right kidney, the kidney size was larger than normal. Tests showed a creatinine index of 53.16, an eGFR of 195 ml/min/1.73m², a normal urinalysis, and a urinary albumin/creatinine index of 20.64, indicating that the patient's kidney function had not been impaired.

Based on the abnormalities recorded on ultrasound images, the doctor diagnosed A with stage 1 chronic kidney disease, the earliest stage when kidney function is still normal and there are no clinical symptoms or manifestations outside the kidney.

The doctor continued to prescribe additional screening tests for extra-renal manifestations of polycystic kidney disease such as liver and pancreas ultrasound to look for cysts, electrocardiogram and echocardiogram to detect early heart valve disease, coronary artery disease or cerebral aneurysm.

Although no medication was needed, the patient was advised to take measures to protect kidney function to the maximum, such as drinking enough water to avoid dehydration, avoiding using drugs that are toxic to the kidneys without a doctor's prescription, limiting salt in the diet, and avoiding causes of urinary tract obstruction such as kidney stones.

At the same time, you also need to periodically monitor the progression of the disease through kidney volume indexes by ultrasound or MRI, eGFR index, proteinuria, albuminuria, and regularly check blood pressure as well as extra-renal manifestations such as liver cysts, cardiovascular disease, cerebral aneurysm. If there are factors that accelerate the progression of kidney failure such as high blood pressure, proteinuria, hyperglycemia or other glomerular diseases, early treatment is needed.

The doctor also recommended that the patient's maternal family members be screened for polycystic kidney disease, especially the aunt's two children. Although A's sister has not shown any signs of the disease on her current ultrasound, she still needs to be monitored regularly because the disease can have a late onset.

According to Dr. Le, polycystic kidney disease is a genetic disorder characterized by the appearance of multiple cysts on both sides of the kidneys, causing the kidneys to enlarge. About 25% of cases have no clinical symptoms and are therefore not diagnosed. The disease progresses silently, the number of cysts increases over time, leading to a gradual decline in kidney function.

If not detected and monitored early, the disease can progress to the final stage, requiring renal replacement therapy such as hemodialysis, peritoneal dialysis or kidney transplantation.

In addition, the disease can also cause many other complications such as high blood pressure, kidney stones, urinary tract infections, back pain, hematuria and especially extra-renal complications such as liver cysts, cerebral aneurysms that can lead to cerebral hemorrhage and cardiovascular diseases. Therefore, early screening provides the opportunity for timely treatment, slowing disease progression and improving the quality of life for patients.

According to the recommendations of the International Society of Nephrology (KDIGO), people with a family history of polycystic kidney disease should have an abdominal ultrasound for screening. For people aged 15 to 39, if 3 or more cysts are detected in both kidneys, the disease can be diagnosed.

In people aged 40 to 59 years, the standard is 2 or more cysts on each kidney. In addition to abdominal ultrasound, tests needed to diagnose and monitor the disease include blood count, ionogram, BUN, serum creatinine, urinalysis, microalbuminuria/creatinineuria, electrocardiogram, echocardiogram, liver and pancreas ultrasound.

Dr. Le emphasized that the kidney is an organ with a great compensatory capacity, so most kidney diseases, including polycystic kidney disease, progress silently. When symptoms appear, the damage is usually severe. Therefore, people at high risk should proactively screen for early detection and timely management.

Gastrointestinal cancer patients are treated with new solutions

Hanoi Oncology Hospital said that doctors from the hospital's General Surgery Department have successfully performed surgery to remove the entire stomach tube and reconstruct the esophagus using a segment of colon for a patient with a history of esophagectomy due to cancer.

According to the CT scan, the patient had severe damage to the stomach tube. After consultation, the doctors determined that the optimal treatment plan was to remove the entire stomach tube, remove the lymph nodes, and reconstruct the esophagus using the left colon segment.

Dr. Le Van Thanh, Deputy Director of the Hospital and Head of the General Surgery Department, said that this is a complex surgical technique, requiring high coordination between the digestive surgery team, anesthesia and resuscitation, and post-operative care.

Colonic reconstruction not only requires ensuring good length and vascularity of the bowel segment, but also takes into account anatomical changes caused by previous surgery.

During the surgery, the surgeons brought the colon up to the chest and neck, connecting it directly to the remaining part of the esophagus, completely replacing the digestive function of the removed stomach. This is one of the highly specialized surgical solutions, helping to preserve the patient's ability to eat naturally.

After surgery, the patient recovered well, ate again quickly, stabilized his general condition and was discharged after 8 days of inpatient treatment. Postoperative pathology results showed that the patient had stage III gastric cancer. The patient will continue to receive adjuvant chemotherapy to improve the overall treatment effectiveness and prolong survival.

The surgery not only completely removes the malignant tumor but also maintains physiological digestive function, avoiding the need for ileostomy or the use of long-term alternative nutrition methods. This is a key factor in improving the quality of life and the ability to reintegrate into the community of cancer patients after treatment.

Risk of stroke recurrence due to large mobile tumors in the heart

Mrs. Huong (64 years old) was admitted to the hospital in a state of fatigue when exerting herself. The results of the examination at the hospital showed that she had a myxoma measuring 11x4 cm located in the left atrium, moving through the mitral valve. This is a serious risk that can lead to embolism, recurrent stroke or sudden death if not intervened promptly.

A year ago, Mrs. Huong suffered a stroke. Doctors suspected the cause was a heart embolism. Three months later, an echocardiogram showed a mass in the left atrium, suspected to be a myxoma. Doctors recommended early surgery, but the family was hesitant because the patient had not fully recovered from the stroke.

In June this year, during a routine health check-up, Ms. Huong had an echocardiogram and discovered that the tumor had grown large. If not operated on promptly, the tumor could cause mitral valve stenosis due to blocking the valve opening, or cause a stroke or sudden cardiac arrest due to obstructed blood flow. Doctors held a consultation and decided to perform emergency surgery to remove the tumor, avoiding the risk of sudden death.

The surgery was directly performed by Dr. Tran Thuc Khang, Deputy Head of the Cardiovascular Surgery Department, Cardiovascular Center. The team removed the entire mucinous tumor attached to the atrial septum, cut widely around the base of the tumor to limit the risk of recurrence, and at the same time checked and reconstructed the mitral valve and atrial septum.

Post-operative pathology confirmed that this was a benign tumor. A week after surgery, Mrs. Huong recovered well, no longer tired when exerting herself, returned to normal activities and continued to receive supportive treatment after surgery.

According to Dr. Khang, cardiac myxoma is a rare disease, accounting for only about 0.01 - 0.2% of all heart surgeries, of which 75% are benign tumors. The tumor usually appears in the left atrium, in some cases it can be located in the right atrium or ventricle.

Although benign, myxoma can cause serious complications such as mechanical obstruction (in the mitral valve, left ventricular outflow tract), distal embolism (tumor fragments drift through the bloodstream causing blockage of blood vessels in the brain, limbs, organs...), local damage (damage to the mitral valve, conduction disorders), and even sudden death.

Patients may have no obvious symptoms. Some may have systemic manifestations such as prolonged fever, weight loss, fainting, fatigue during exertion or sudden unexpected death.

Therefore, doctors recommend that the elderly and people with abnormal cardiovascular symptoms should go to specialized medical facilities for early diagnosis and timely treatment. In particular, echocardiography is the standard, simple and effective method for early detection of cardiac myxoma.

Escape the risk of facial paralysis thanks to detecting parotid gland tumors and appropriate treatment

Mr. Toan (name changed), when going to Tam Anh General Hospital in Ho Chi Minh City, was found to have a 4.5 cm parotid tumor that had spread to the deep lobe of the left parotid gland.

Biopsy results determined that this was a benign tumor, however its large size and location close to the 7th cranial nerve put the case at high risk of causing facial paralysis if not treated properly.

Dr. Do Tuong Huan, Department of Breast - Head and Neck Surgery, said that the parotid gland is the largest salivary gland and has the 7th nerve (facial nerve) passing through it.

When the glandular tumor grows large, especially spreading to the deep lobe, it will compress and deform the facial nerve, causing great difficulty in surgery, while increasing the risk of nerve damage during and after surgery.

Faced with this situation, the doctor ordered surgery to remove the tumor and preserve the facial nerve to the maximum to prevent complications of facial paralysis. The surgical team exposed the entire left parotid gland, determined the origin of the 7th nerve, and separated the 5 branches passing through the gland to remove the superficial lobe. Then, approaching the deep lobe where the tumor was located, the doctor performed the separation and elevation of the facial nerve, and completely cut the deep lobe with the tumor.

After surgery, the patient had temporary mild paralysis of the facial nerve and the greater auricular nerve, but no dangerous complications were recorded. The doctor predicted that nerve function would recover in a few weeks. Post-operative pathology results confirmed that the tumor was benign.

The parotid gland is one of the body's three major salivary glands, along with the submandibular gland and the sublingual gland.

This gland is responsible for secreting large amounts of saliva into the oral cavity. The seventh cranial nerve, which controls the facial muscles, passes through the glandular tissue, so any injury or surgery to this area must be considered and performed very carefully.

Parotid gland tumor is a type of salivary gland tumor that usually progresses slowly over many years, is painless, and the skin around the tumor remains smooth and uninfiltrated.

The exact cause of the disease is unknown, but documented risk factors include viral infections, salivary gland stones, gene mutations, radiation exposure, unhealthy lifestyles such as smoking, eating a lot of fat, foods rich in cholesterol, etc.

According to experts, the disease can occur in both adults and children, but if detected early and treated properly, the chance of recovery is very high.

People are advised that if they see unusual swelling or puffiness in the parotid area, difficulty chewing or swallowing, or a feeling that is clearly different from the opposite side, they should quickly go to a specialized medical facility for examination.

Regular health check-ups also play an important role in early detection of abnormalities in the salivary glands and structures of the head, face and neck.

Source: https://baodautu.vn/tin-moi-y-te-ngay-69-phat-hien-mac-benh-than-di-truyen-du-hoan-toan-khoe-manh-d379416.html