completely on glycolysis for energy so they get hemolyzed more easily. It is autosomal recessive. •
Autosomal recessive polycystic kidney disease—this is less likely to be the case compared to autosomal dominant disease. There are numerous bilateral cysts in the collecting ducts of the kidneys.
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Fanconi’s syndrome type I—this is child-onset cystinosis and is an autosomal recessive kidney disease. It involves cystine deposition in the entire body and cystinuria with defective tubular resorption leading to amino aciduria and chronic acidosis. The patient will have vitamin D-resistant rickets.
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Fanconi’s syndrome type II—this is adult-onset, autosomal recessive renal disease. It is similar to type I disease but does not involve cystinosis. Adults with disease will have osteomalacia, amino aciduria, polyuria, and glycosuria.
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Bartter’s syndrome—this is an autosomal recessive renal disease that results in juxtaglomerular cell hyperplasia and primary hyperreninemia. There is hypokalemic alkalosis, increased renin and aldosterone levels but no hypertension.
X-LINKED DISORDERS X-linked disorders involve a defect carried on the X chromosome. These are almost exclusively recessive traits. Males have the disease to a much higher degree when compared to women. Female carriers will pass the disease onto half of all boys and will lead to a carrier status in half of all girls. A male with the disease will not pass the disease onto their sons but will lead to a carrier status in all female children. •
Wiskott-Aldrich syndrome—this is an x-linked immune deficiency disease in which there is an inability to mount an IgM response to the capsules of pyogenic bacteria. It leads to increased infections in infancy, thrombocytopenia, excessive bleeding, and eczema.
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