Introduction to uncommon kidney syndrome

  Fanconi syndrome: Fanconi syndrome is a medical disorder characterized by impaired renal proximal tubular function, which is less common clinically. The clinical manifestations of Fanconi syndrome are impaired reabsorption of sodium, potassium, calcium, phosphorus, glucose, water, amino acids, bicarbonate, uric acid, citrate and low molecular protein by the renal proximal tubule, resulting in a significant increase in urinary excretion of these substances. The clinical manifestations vary depending on the degree of renal tubular damage, from renal diabetes and impaired reabsorption of one of the above substances (e.g., amino acids) in mild cases to severe rickets or chondromalacia in severe cases.  Bartter syndrome: Also known as congenital hyperaldosteronism, angiotensin deficiency, paraglomerular hyperplasia, paraglomerular cell tumor, diffuse paraglomerular hyperplasia, congenital hypokalemia, and tubulointerstitial alkalosis. It can be divided into at least three subtypes according to genetic and clinical features: prenatal or neonatal Bartter syndrome, classical Bartter syndrome and Gitelman syndrome). It is a group of autosomal recessive renal tubular diseases based on abnormal renal electrolyte transport with varying molecular mechanisms.  It is characterized by hyperplastic hypertrophy of the glomerular parietal apparatus and increased secretion of the renin-angiotensin-aldosterone system and prostaglandin system. It is characterized by hypoazotaemia, hypochloremic, hypokalemic metabolic alkalosis with renal loss of potassium and normal blood pressure despite increased renin. Hypokalemia and hypomagnesemia can lead to hand and foot convulsions. The etiology of this disease is unclear, and the pathogenesis may be due to congenital impairment of chloride reabsorption from the ascending branch of the medullary collaterals of the renal tubules, resulting in concomitant loss of sodium, and the distal drainage of potassium from the renal tubules to preserve sodium, resulting in hypochloremic hypokalemic alkalosis. Clinical manifestations are polyuria, malaise, thirst, nocturia, enuresis, and craving for vinegar, pickles, and salt.  Dent’s disease: also known as renal Fanconi syndrome with renal calcification and kidney stones, is a chromosomal disease. It is due to a mutation in the CLC-5 gene that disables the voltage-off chloride channel. It is characterized by low molecular weight proteinuria, hypercalciuria, hypophosphatasia, renal calculi and renal failure. It also manifests as hypercalciuric rickets and microglobulinuria.  Bartter syndrome is a disorder of vascular tone and elasticity caused by an abnormality (mutation) in the cellular chloride channel (CLC) protein, which together with two other disorders (congenital myasthenia gravis and Dent’s disease) constitute a chloride channel disorder. It is generally customary to refer to these disorders collectively as Bartter syndrome.  Nelson syndrome: This refers to pituitary ACTH-secreting tumors that occur after bilateral adrenalectomy for Cushing’s disease or rapid enlargement of existing microadenomas into macroadenomas with high blood ACTH levels, characterized clinically by progressive skin and mucosal pigmentation, enlargement of the pterygoid saddle, and reduced visual fields.  The main clinical manifestations of CSWS are hyponatremia, elevated urinary sodium and hypovolemia. The main clinical manifestations of CSWS are hyponatremia, increased urinary sodium and hypovolemia; whereas SIADH is normovolemia or mildly increased blood volume, which is the main difference from CSWS. In addition, CSWS is effective for sodium and blood volume replacement, while water restriction therapy is ineffective and worsens the condition.  Sheehan syndrome: Various lesions of the pituitary gland or hypothalamus can involve the endocrine function of the pituitary gland, and when all or most of the pituitary gland is destroyed, it can produce a series of endocrine glandular hypofunction, mainly involving the gonads, thyroid and adrenal cortex. Hypopituitarism, also known as Silhan’s syndrome (often referred to as postpartum hemorrhage induced hypopituitarism). The most common causes are postpartum ischemic necrosis of the pituitary gland and pituitary adenoma.