scholarly journals Late-onset nephrotic syndrome with thyroid hypoplasia and nup85 mutation in Galloway-Mowat syndrome: A case report

2021 ◽  
pp. 369-372
Author(s):  
Anirban Sen ◽  
Atanu Pal ◽  
Ankit Ankit ◽  
Koushik Bhattacharjee ◽  
Dipankar Sircar ◽  
...  
Keyword(s):  
Renal Function ◽  
Nephrotic Syndrome ◽  
Autosomal Recessive ◽  
Late Onset ◽  
Cerebellar Atrophy ◽  
Facial Dysmorphism ◽  
Homozygous Mutation ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Intellectual Function

Galloway-Mowat syndrome is an autosomal recessive rare hereditary disorder with progressively worsening renal function, neurological and psychomotor abnormalities, microcephaly, facial dysmorphism, and thyroid, adrenal, and ovarian hypoplasia/agenesis. Here, we present the case of a 9-year-old girl who presented with late-onset steroid-resistant nephrotic syndrome with rapid worsening of renal function, microcephaly, hypertelorism, high-arched palate, delayed speech and developmental milestones, poor intellectual function, short stature, hypertension, and hypothyroidism. Magnetic resonance imaging brain was suggestive of cerebral and cerebellar atrophy, hypomyelination, and optic atrophy. Renal biopsy was suggestive of focal segmental glomerulosclerosis. Whole-genome exon sequencing revealed a homozygous mutation in the NUP85 gene. The clinicians should be aware of this rare syndrome and consider it as a possibility in any patient presenting with nephrotic syndrome, microcephaly, and neurological abnormality.

scholarly journals Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

2011 ◽  
Vol 80 (4) ◽  
pp. 389-396 ◽  
Author(s):  
Simone Sanna-Cherchi ◽  
Katelyn E. Burgess ◽  
Shannon N. Nees ◽  
Gianluca Caridi ◽  
Patricia L. Weng ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Exome Sequencing ◽  
Candidate Genes ◽  
Autosomal Recessive ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

SCREENING OF MUTATIONS IN THE NPHS2 GENE IN GREEK PATIENTS WITH AUTOSOMAL-RECESSIVE STEROID-RESISTANT NEPHROTIC SYNDROME

PEDIATRICS ◽  
2008 ◽  
Vol 121 (Supplement 2) ◽  
pp. S117.1-S117
Author(s):  
Spyridon Megremis ◽  
Artemis Mitsioni ◽  
Andromachi Mitsioni ◽  
Constantinos Stefanidis ◽  
Sofia Kitsiou-Tzelli ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Autosomal Recessive ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Nphs2 Gene

Therapeutic Response and Long-Term Renal Outcomes in Childhood Idiopathic Steroid-Resistant Nephrotic Syndrome: A Single-Center Study

Nephron ◽  
2021 ◽  
pp. 1-8
Author(s):  
Jiwon Jung ◽  
Joo Hoon Lee ◽  
Young Seo Park
Keyword(s):  
Renal Function ◽  
Nephrotic Syndrome ◽  
Therapeutic Response ◽  
Glomerular Sclerosis ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Renal Outcomes ◽  
Focal Segmental Glomerular Sclerosis

<b><i>Purpose:</i></b> We aimed to evaluate therapeutic response and long-term renal outcomes of childhood idiopathic steroid-resistant nephrotic syndrome (iSRNS). <b><i>Methods:</i></b> We retrospectively reviewed treatment regimens, especially calcineurin inhibitor (CNI), pathologic diagnoses, and long-term renal outcomes of iSRNS patients for 30 years. <b><i>Results:</i></b> Of 516 patients with idiopathic NS, 52 (10.1%) had iSRNS. Renal biopsies from 48 patients showed minimal change disease (MCD) in 23 (47.9%), focal segmental glomerulosclerosis in 24 (50.0%), and mesangioproliferative glomerulonephritis in 1 (2.1%). The median follow-up period was 66.5 (range, 4–275) months, and 90.4% of them were treated with a CNI. CNI induced remission in 70.2% within 50.4 ± 43.5 days. Of the patients with MCD and focal segmental glomerular sclerosis (FSGS), 86.4% (19/22) and 45.0% (9/20) (<i>p =</i> 0.005) responded to CNI, respectively. Mean time until remission after using CNI was longer with FSGS (90.4 ± 54.0 days) than with MCD (29.6 ± 26.3 days) (<i>p =</i> 0.010). CNI-responsive patients with FSGS or MCD showed preserved renal function, and CNI nonresponsive MCD patients also showed preserved renal function during follow-up. However, end-stage renal disease (ESRD) progressed in 8 out of 11 patients with FSGS nonresponsive to the CNI for an average of 44.9 ± 18.4 months after diagnosis. <b><i>Conclusion:</i></b> Different response rates and times for remission were achieved with the CNI according to the pathology of iSRNS. All MCD patients regardless of CNI response and all CNI-responsive patients with FSGS showed excellent renal outcomes, while almost all FSGS patients nonresponsive to CNI eventually progressed to ESRD.

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

10.1038/74166 ◽  
2000 ◽  
Vol 24 (4) ◽  
pp. 349-354 ◽  
Author(s):  
Nicolas Boute ◽  
Olivier Gribouval ◽  
Séverine Roselli ◽  
France Benessy ◽  
Hyunjoo Lee ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Autosomal Recessive ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Cengiz Zeybek ◽  
Gokalp Basbozkurt ◽  
Salih Hamcan ◽  
Ayhan Ozcan ◽  
Davut Gul ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Autosomal Recessive ◽  
Clinical Presentation ◽  
Central Nervous System Involvement ◽  
Cerebral Atrophy ◽  
Autosomal Recessive Disorder ◽  
Psychomotor Retardation ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Collapsing Glomerulopathy

Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome. However, this syndrome is now known to have a heterogeneous clinical presentation. The nephrotic syndrome is steroid resistant and is responsible for the outcome. The combination of collapsing glomerulopathy and GMS is very rare. A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus. Magnetic resonance imaging showed marked cerebral atrophy, optic atrophy, and hypomyelination. A renal biopsy was consistent with collapsing glomerulopathy. If collapsing glomerulopathy is associated with neurological abnormalities, especially with microcephaly, clinicians should consider GMS as a possible underlying cause.

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome

2012 ◽  
Vol 28 (5) ◽  
pp. 751-757 ◽  
Author(s):  
Andrea Kerti ◽  
Rózsa Csohány ◽  
Attila Szabó ◽  
Ottó Árkossy ◽  
Péter Sallay ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Late Onset ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature

2020 ◽  
Author(s):  
Lesa Dawman ◽  
Anit Kaur ◽  
Ritambhra Nada ◽  
Soumalya Chakraborty ◽  
Sanjeev Handa ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Autosomal Recessive ◽  
Skin Lesions ◽  
Homozygous Mutation ◽  
Steroid Resistant ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Novel Association ◽  
History Of

AbstractNephrotic syndrome (NS) associated with autosomal recessive congenital ichthyosis (ARCI) is a rare association. We describe a 4-year-old boy with steroid-resistant NS (SRNS) who had a history of ichthyotic skin lesions since birth. Renal biopsy revealed focal segmental glomerulosclerosis (tip variant). The skin biopsy was consistent with the findings of ichthyosis. Next-generation sequencing revealed a homozygous pathogenic variant (c.1625_1626del) in the exon 12 of the ALOX12B gene, confirming the diagnosis of ARCI2. The ALOX12B gene belongs to the lipoxygenase family and has a pivotal role in the formation of lipid layers in the epidermis. Leukotrienes have a counter-regulatory effect within the inflamed glomeruli, which influences the vascular tone and glomerular basement membrane permeability, that can be implicated in the pathogenesis of the NS. This child is currently in remission, on tacrolimus and low-dose prednisolone, with emollients and is on regular follow-up. SRNS associated with congenital ichthyosis secondary to a mutation in the ALOX12B gene has never been reported so far. The knowledge regarding this novel association will help the treating physicians in diagnosing this condition early, which will enable proper genetic counseling and prognostication of the disease to the family.

Sign in / Sign up

Export Citation Format

Share Document