Salt losing nephropathy simulating congenital adrenal hyperplasia in infants with obstructive uropathy and/or vesicoureteral reflux--value of ultrasonography in diagnosis. 1991

T L Levin, and S J Abramson, and K A Burbige, and J P Connor, and C Ruzal-Shapiro, and W E Berdon
Department of Pediatric Radiology, Columbia Presbyterian Medical Center, Babies Hospital, New York.

Salt losing nephropathy, occurring predominantly in male infants, has been reported in association with a spectrum of urologic diseases including obstructive uropathy and massive, infected vesicoureteral reflux (VUR). This has been called pseudo-hypoaldosteronism (PHA) or alternatively, pseudo salt-losing congenital adrenal hyperplasia (CAH), and is thought to reflect a tubular unresponsiveness to aldosterone. We report our experience with six cases, discuss one case in detail and review the 39 cases previously reported. A one month old male infant presented with a left upper quadrant mass. Signs and symptoms included vomiting, dehydration, hyponatremia and hyperkalemia. This suggested the diagnosis of CAH for which therapy was instituted. Ultrasonographic examination subsequently revealed the mass to be a urinoma in an infant with posterior urethral valve (PUV) and obstructive hydronephrosis.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007668 Kidney Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. Kidneys
D008297 Male Males
D011546 Pseudohypoaldosteronism A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION. Gordon Hyperkalemia-Hypertension Syndrome,Hyperpotassemia and Hypertension, Familial,Hypertensive Hyperkalemia, Familial,Pseudohypoaldosteronism Type 1,Pseudohypoaldosteronism Type 1, Autosomal Recessive,Pseudohypoaldosteronism, Type I,Pseudohypoaldosteronism, Type I, Autosomal Dominant,Pseudohypoaldosteronism, Type I, Autosomal Recessive,Pseudohypoaldosteronism, Type II,Familial Hyperpotassemia and Hypertension,Familial Hypertensive Hyperkalemia,Pseudohypoaldosteronism Type 1, Autosomal Dominant,Pseudohypoaldosteronism Type 2,Pseudohypoaldosteronism Type I,Pseudohypoaldosteronism Type II,Familial Hypertensive Hyperkalemias,Gordon Hyperkalemia Hypertension Syndrome,Hyperkalemia, Familial Hypertensive,Hyperkalemia-Hypertension Syndrome, Gordon,Hyperkalemias, Familial Hypertensive,Hypertensive Hyperkalemias, Familial,Pseudohypoaldosteronism Type 1s,Pseudohypoaldosteronism Type 2s,Pseudohypoaldosteronism Type IIs,Pseudohypoaldosteronism Type Is,Pseudohypoaldosteronisms,Pseudohypoaldosteronisms, Type I,Pseudohypoaldosteronisms, Type II,Syndrome, Gordon Hyperkalemia-Hypertension,Type 1, Pseudohypoaldosteronism,Type I Pseudohypoaldosteronism,Type I, Pseudohypoaldosteronism,Type II Pseudohypoaldosteronism,Type II Pseudohypoaldosteronisms,Type II, Pseudohypoaldosteronism,Type IIs, Pseudohypoaldosteronism,Type Is, Pseudohypoaldosteronism
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006869 Hydronephrosis Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER. Hydronephroses
D000312 Adrenal Hyperplasia, Congenital A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. Congenital Adrenal Hyperplasia,Hyperplasia, Congenital Adrenal,Adrenal Hyperplasias, Congenital,Congenital Adrenal Hyperplasias,Hyperplasias, Congenital Adrenal

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