Adrenal calcification and congenital nephrotic syndrome in three American Indians

Powers, Richard J.; Cohen, Melvin L.; Williams, James C.

doi:10.1007/bf00858433

Cited by 10 publications

(8 citation statements)

References 8 publications

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“…Bilateral adrenal calcifications and congenital nephrotic syndrome with other clinical findings such as hypogonadism (as reported herein) and cardiac malformations (as previously reported) suggest a new clinical entity of autosomal recessive inheritance. This entity should be added to the short list of potential etiologies of prenatal adrenal calcifications.…”

Section: Discussionsupporting

confidence: 82%

“…The association of congenital proteinuria and adrenal calcifications was first reported in three patients of American Indian origin . Later, Indumathi et al .…”

Section: Discussionmentioning

confidence: 99%

“…The association of congenital proteinuria and adrenal calcifications was first reported in three patients of American Indian origin. 13 Later, Indumathi et al reported an additional patient with congenital nephrotic syndrome, adrenal calcifications, and a cardiac malformation. 14 In both reports, the etiology of the adrenal calcifications was not known and hypogonadism was not reported ( Table 1).…”

Section: Discussionmentioning

confidence: 99%

“…Descriptions of the patients' clinical findings and the patients from the literature Indumathi et al 14 Powers et al13 …”

mentioning

confidence: 99%

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Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease

et al. 2014

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What's already known about this topic? Prenatal bilateral adrenal calcifications are a rare prenatal finding. Adrenal calcifications may be seen with intrauterine infections, tumor, or in Wolman disease. Risk factors for adrenal calcifications include large birth weight, hypoxia, septicemia, coagulation defects, and thromboembolism. The association of adrenal calcifications and proteinuria has been published in two reports of four different patients.What does this study add? We propose that the constellation of bilateral adrenal calcifications, micropenis, testicular dysfunction, increased fetal nuchal translucency, and congenital nephrotic syndrome represents a new clinical entity. The consanguinity in this family suggests an autosomal recessive inheritance of this disease. This entity should be considered in the differential diagnosis of bilateral adrenal calcifications.

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Section: Discussionsupporting

confidence: 82%

“…The association of congenital proteinuria and adrenal calcifications was first reported in three patients of American Indian origin . Later, Indumathi et al .…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Descriptions of the patients' clinical findings and the patients from the literature Indumathi et al 14 Powers et al13 …”

mentioning

confidence: 99%

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Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease

et al. 2014

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“…The association of congenital proteinuria and adrenal calcifications is very rare and was first reported in three patients of American Indian origin (Powers, Cohen, & Williams, 1990), and later in an Indian patient with CNS, adrenal calcifications, and a cardiac malformation (Indumathi, Dinakar, Lewin, & Phadke, 2005), and in two patients who were first cousins (Schreyer-Shafir et al, 2014). One male patient had nonpalpable testes and micropenis, and another patient had pericardial and pleural effusions, generalized hydrops, and a cleft palate.…”

Section: Introductionmentioning

confidence: 99%

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Janecke

Steichen-Gersdorf

et al. 2017

Human Mutation

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We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing two homozygous truncating mutations, c.1513C>T (p.Arg505*) and c.934delC (p.Leu312Phefs*30), were identified in SGPL1 encoding sphingosine-1-phosphate lyase 1. SGPL1 catalyzes the irreversible degradation of endogenous and dietary sphingosine-1-phosphate (S1P), the final step of sphingolipid catabolism, and of other phosphorylated long-chain bases. S1P is an intra- and extracellular signaling molecule involved in angiogenesis, vascular maturation, and immunity. The levels of SGPL1 substrates, S1P and sphingosine were markedly increased in the patients’ blood and fibroblasts, as determined by liquid chromatography-tandem mass spectrometry. Vascular alterations were present in a patient’s renal biopsy, in line with changes seen in Sgpl1 knockout mice that are compatible with a developmental defect in vascular maturation. In conclusion, loss of SGPL1 function is associated with congenital nephrotic syndrome, adrenal calcifications, and hypogonadism.

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Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature

Ron

Scobell

Strong

et al. 2022

American J of Med Genetics Pt A

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Sphingosine Lyase Insufficiency Syndrome (SPLIS) or SGPL1 Deficiency is a newly described entity that is characterized by steroid-resistant nephrotic syndrome, primary adrenal insufficiency, lymphopenia, ichthyosis, and/or endocrine and neurologic abnormalities. The earliest identification of SGPL1 pathogenic variants in association with this syndrome was reported in 2017. Since then, at least 36 patients have been reported with this pediatric syndrome. Here, we report a new patient with SPLIS who had a prenatal finding of adrenal calcifications, congenital nephrotic syndrome, and abnormal newborn screening concerning for Severe Combined Immunodeficiency. We conclude that SPLIS is a clinically recognizable condition with prenatal onset. This case should increase awareness of SPLIS in the differential diagnosis for adrenal calcifications. We present a case on the severe end of the clinical spectrum of SPLIS, and a review of the literature.

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Adrenal calcification and congenital nephrotic syndrome in three American Indians

Abstract: Two Pima and one Papago Indian infants with congenital nephrosis and adrenal calcifications are described. All developed anasarca early and none had an explanation for the adrenal calcification.

Cited by 10 publications

References 8 publications

Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease

Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature

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