Congenital Nephrotic Syndrome Detected by Hypothyroid Screening

Abstract

An infant was evaluated for a low thyroxine value, detected on routine neonatal screening for congenital hypothyroidism. She was found to have the congenital nephrotic syndrome, and to be euthyroid with low thyroid binding globulin. Congenital nephrosis can be detected by neonatal screening programs which use thyroxine as the primary screening test, but not by those which use TSH. This may be important in those countries in which the incidence of congenital nephrosis approaches that of congenital hypothyroidism.

Transient Congenital Hypothyroidism in an Infant With Congenital Nephrosis of Finnish Type

“…The disease is usually fatal within the first 12 months of life (8). Physical findings consistent with hypothyroidism are frequently observed (9) but only recently has serum thyroid hormone pattern in a newborn with C N F been investigated. The patient had high-normal TSH, low T4 and TBG but normal FT4 values; no further investigation of the pituitary-thyroid axis was performed (9).…”

“…Congenital nephrosis is relatively frequent in Finland (8) and may occur sporadically in other ethnic groups. Although infants with this disorder exhibit hypercholesterolemia and clinical features suggesting hypothyroidism (9) the pituitary-thyroid axis has not been adequately studied.…”

Changes in Thyroid Function Tests in Infantile Nephrotic Syndrome

“…In adult nephrotic patients with augmented urinary losses of thyroid hormones, circulating T 3 and T 4 are generally low (Musa, Seal and Doe 1967;Herrmann, Bahlmann and Kruskemper 1972) or low-normal (Gavin et al 1978), but clinical and biochemical euthyroidism is maintained by normal serum concentrations of free thyroid hormones, with no increase of TSH secretion (Gavin et al 1978;Afrasiabi et al 1979). Pituitary-thyroid axis function has been investigated only occasionally in nephrotic children (Etling, Lenoir and Gehin-Foque 1980;Finnegan, Slosberg, Postellon and Primack 1980), although infantile nephrotic syndrome is relatively frequent, especially in Finland (Huttunen 1976).…”

Nephrotic syndrome at 5 months: no definitive treatment or complications for 12 years

“…He had no extrarenal manifestations of neonatal infections associated with nephrotic syndrome [7][8][9] nor of systemic lupus [10], Denys-Drash syndrome [11], or GallowayMowat syndrome [12]. Although the finding of hypothyroidism in the neonatal period may have been caused by early onset nephrotic syndrome [13], the age of presentation of edema and the renal histopathological findings were not typical for congenital nephrotic syndrome of the Finnish type [14]. The initial cholesterol concentration was not very high, but he definitely had renal disease.…”