Congenital Nephrotic Syndrome with adrenal calcification and cardiac malformation

Indumathi, C K; Dinakar, Chitra; Lewin, Sanjiv; Phadke, Kishore

doi:10.1007/bf02724410

Cited by 7 publications

(7 citation statements)

References 7 publications

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“…Later, Indumathi et al . reported an additional patient with congenital nephrotic syndrome, adrenal calcifications, and a cardiac malformation . In both reports, the etiology of the adrenal calcifications was not known and hypogonadism was not reported (Table ).…”

Section: Discussionsupporting

confidence: 82%

“…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: Discussionmentioning

confidence: 99%

“…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). The resemblance of the perinatal presentation of these two patients and the consanguinity ( Table 1) were suggestive that the fetuses were affected with the same disease.…”

Section: Discussionmentioning

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%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

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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“…[6] Secondary CNS is usually caused by perinatal infections such as congenital syphilis, toxoplasmosis, rubella, cytomegalovirus, HIV, and hepatitis B. [8] Finally, CNS has been reported in infantile systemic lupus erythematosus. [9] Diagnosing the cause and the mechanisms of CNS in an individual patient is a difficult task and this requires careful analysis of clinical and laboratory data, the morphological picture on biopsy and genetic testing.…”

Section: Discussionmentioning

confidence: 99%

Pierson syndrome: A case report with a neonatal cardiac association based on a novel mutation in the LAMB2 gene

et al. 2015

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Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don't respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson syndrome (which mainly affects the kidneys and eyes). Mutations in the genes NPHS1, NPHS2, and WT1 are known to account for the majority of CNS cases, whereas a definitive diagnosis of Pierson syndrome can be established by the detection of a causative mutation in both copies of a patient's LAMB2 gene (encoding laminin β2). CNS can manifest in utero (ultrasound may reveal hyperechogenic kidneys and oligohydramnios), or during the first 3 months of life. Pierson syndrome is an autosomal recessive disorder comprised of CNS and distinct ocular abnormalities. The prognosis of this extremely rare disorder is very poor, with the most babies developing end-stage renal disease. Those who do survive tend to show the neurodevelopmental delay and visual loss. We report a case of neonatal Pierson syndrome in conjunction with complex cyanotic cardiac disease in which a novel homozygous mutation in the LAMB2 gene was detected. The clinical association of Pierson syndrome with heart manifestation is a novel finding, reported here for the 1 st time.

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Congenital Nephrotic Syndrome with adrenal calcification and cardiac malformation

Cited by 7 publications

References 7 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

Pierson syndrome: A case report with a neonatal cardiac association based on a novel mutation in the LAMB2 gene

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