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Symptoms in infancy: Hyperosmolar plasma, dilute urine Autosomal dominant nephrogenic diabetes insipidus type 2 [192340] AQP2: 12q13: AD and AR: Polyuria, polydipsia, dehydration, inability to form concentrated urine. Symptoms after first year of life: Hyperosmolar plasma, dilute urine
Kidney stone disease, also known as renal calculus disease, nephrolithiasis or urolithiasis, is a crystallopathy where a solid piece of material (renal calculus) develops in the urinary tract. [2] Renal calculi typically form in the kidney and leave the body in the urine stream. [2] A small calculus may pass without causing symptoms. [2]
Nephroptosis is rare and abnormal condition in which the kidney drops down (ptosis) into the pelvis when the patient stands up. It is more common in women than in men. It has been one of the most controversial conditions in terms of both its diagnosis and its treatments. [1]
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
Europe and other parts of the world use the ICD-10. The root codes for ICD-10 and ICD-10-CM are the same, making it helpful for locating codes for general body systems and disease processes. [2] [3] In ICD-11 the search and coding of any disease, including rare ones is done via the ICD-11 website. [4]
In the general population, the frequency of medullary sponge kidney disease is reported to be 0.02–0.005%; that is, 1 in 5000 to 1 in 20,000. The frequency of medullary sponge kidney has been reported by various authors to be 12–21% in patients with kidney stones. [10] The disease is bilateral in 70% of cases. [citation needed]
Segmental hypoplasia or Ask-Upmark kidney is a rare renal disease where a part of the kidney has undergone hypoplasia. The number of renal lobes is reduced, and the kidney size is less than two standard deviations from the average, with the weight often being over 50g in adults and 12–25g in children.
The males are prone to manifesting symptoms in early adulthood with symptoms of calculi, rickets or even with kidney failure in more severe cases. [4] In humans, gene CLCN5 is located on chromosome Xp11.22, and has a 2238-bp coding sequence that consists of 11 exons that span 25 to 30 kb of genomic DNA and encode a 746-amino-acid protein. [7]