Literature DB >> 16388156

Congenital Nephrotic Syndrome with adrenal calcification and cardiac malformation.

C K Indumathi1, Chitra Dinakar, Sanjiv Lewin, Kishore D Phadke.   

Abstract

Congenital Nephrotic Syndrome (CNS) with adrenal calcification and CNS with congenital heart disease (CHD) have rarely been reported. However, CNS with both these rare associations has never been previously reported. Here we report a case of CNS with both rare associations, perhaps the first report from India to the best of our knowledge.

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Year:  2005        PMID： 16388156     DOI： 10.1007/BF02724410

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  6 in total

1.  Management of congenital nephrotic syndrome.

Authors:  Larisa Kovacevic; Christopher J D Reid; Susan P A Rigden
Journal:  Pediatr Nephrol       Date:  2003-04-08       Impact factor: 3.714

2.  Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: role of nephrin.

Authors:  Jaakko Patrakka; Vesa Ruotsalainen; Paula Reponen; Erik Qvist; Jarmo Laine; Christer Holmberg; Karl Tryggvason; Hannu Jalanko
Journal:  Transplantation       Date:  2002-02-15       Impact factor: 4.939

Review 3.  Adrenal calcification and congenital nephrotic syndrome in three American Indians.

Authors:  R J Powers; M L Cohen; J Williams
Journal:  Pediatr Nephrol       Date:  1990-01       Impact factor: 3.714

4.  A stepwise approach to the treatment of early onset nephrotic syndrome.

Authors:  C Licht; F Eifinger; M Gharib; G Offner; D V Michalk; U Querfeld
Journal:  Pediatr Nephrol       Date:  2000-10       Impact factor: 3.714

5.  Cardiac malformations associated with the congenital nephrotic syndrome.

Authors:  V Grech; M K Chan; C Vella; S Attard Montalto; P Rees; R S Trompeter
Journal:  Pediatr Nephrol       Date:  2000-10       Impact factor: 3.714

6.  Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type.

Authors:  J Laine; H Jalanko; H Holthöfer; L Krogerus; J Rapola; E von Willebrand; I Lautenschlager; K Salmela; C Holmberg
Journal:  Kidney Int       Date:  1993-10       Impact factor: 10.612
  6 in total
  3 in total

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

Authors:  Andreas R Janecke; Ruijuan Xu; Elisabeth Steichen-Gersdorf; Siegfried Waldegger; Andreas Entenmann; Thomas Giner; Iris Krainer; Lukas A Huber; Michael W Hess; Yaacov Frishberg; Hila Barash; Shay Tzur; Nira Schreyer-Shafir; Rivka Sukenik-Halevy; Tania Zehavi; Annick Raas-Rothschild; Cungui Mao; Thomas Müller
Journal:  Hum Mutat       Date:  2017-03-06       Impact factor: 4.878

Review 2.  Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature.

Authors:  Hayley A Ron; Rebecca Scobell; Amy Strong; Elizabeth G Salazar; Rebecca Ganetzky
Journal:  Am J Med Genet A       Date:  2022-08-16       Impact factor: 2.578

3.  Lactic acidosis in a newborn with adrenal calcifications.

Authors:  Alexandra Zecic; Joél E Smet; Claudine M De Praeter; Piet Vanhaesebrouck; Carlo Viscomi; Caroline Van Den Broecke; Boel De Paepe; Peter Lohse; Jean-Jacques Martin; Joshua G Jackson; Colin R Campbell; Linda J De Meirleir; Massimo Zeviani; Sara H Seneca; Willy Lissens; Rudy N Van Coster
Journal:  Pediatr Res       Date:  2009-09       Impact factor: 3.756
  3 in total

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