fasting in a 16-year-old girl at-risk of autosomal dominant polycystic kidney disease
نویسندگان
چکیده
autosomal dominant polycystic kidney disease (adpkd) is the most common form of inherited kidney disease that results in renal failure. pkd currently has no causative therapy. however, some treatment options are available, ranging from symptomatic therapy to delaying the onset of end-stage renal failure. early diagnosis of adult polycystic kidney disease is vital in order to prevent its complications. ultrasonongraphy and genetic testing are the two preferred diagnostic techniques with defined limitations, mainly regarding age. herein, we report a case of an adpkd family whom visited the genetic counseling clinic for determining the disease risk in their symptom-free girls aged 16 and 22 years, and discussing other related issues such as their concern about fasting in ramadan.
منابع مشابه
Fasting in a 16-year-old girl at-risk of autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. PKD currently has no causative therapy. However, some treatment options are available, ranging from symptomatic therapy to delaying the onset of end-stage renal failure. Early diagnosis of adult polycystic kidney disease is vital in order to prevent its complic...
متن کاملAutosomal dominant polycystic kidney disease.
The lack of reliable data on frequency, age of onset, survival, spontaneous mutation rate and prognosis in autosomal dominant polycystic kidney disease is a continual source of frustration to physicians involved in counselling patients and their relatives. The only major study to address all of these issues in a defined population was presented by Dalgaard as a 251-page doctoral thesis in 1957 ...
متن کاملAutosomal Dominant Polycystic Kidney Disease
recessive forms (1–3), autosomal dominant polycystic kidney disease (ADPKD) with an incidence of 1 : 500 to 1 : 1000 is one of the commonest hereditary diseases (4). Some 5 million people worldwide are affected. In many countries ADPKD is the fourth most frequent cause of end-stage renal failure. About 85% of these diseases are caused by mutations in the PKD1 gene, the remaining 15% are due to ...
متن کاملAutosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation ...
متن کاملAutosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease. Enlarging cysts within the kidneys are the clinical hallmark of the disease. Renal manifestations include varying degrees of kidney injury, urinary tract infections, kidney stones, and hematuria. Extrarenal manifestations can include pain, hypertension, left ventricular hypertrophy, hepati...
متن کاملAutosomal Dominant Polycystic Kidney Disease
Copyright © 2008 Massachusetts Medical Society. Shortly after being elbowed in the flank during a pickup basketball game, a 35-year-old healthy man has severe, colicky abdominal pain followed by gross hematuria. He is hospitalized, and a renal ultrasound scan reveals bilateral polycystic kidneys and liver cysts, previously unknown to the patient. The blood pressure is 160/100 mm Hg. The serum c...
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عنوان ژورنال:
journal of fasting and healthجلد ۳، شماره ۱، صفحات ۱۸-۲۰
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