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.

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

scholarly journals Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl

2021 ◽  
Vol 9 ◽  
Author(s):  
Ling Hou ◽  
Yue Du ◽  
Yubin Wu ◽  
Yue Zeng ◽  
Chengguang Zhao
Keyword(s):  
Nephrotic Syndrome ◽  
Clinical Presentation ◽  
De Novo ◽  
Autosomal Dominant Disorder ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Psychomotor Delay ◽  
Bilateral Absence ◽  
Patient Reported ◽  
Nail Patella Syndrome

Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns. This disease is caused by heterozygous pathogenic variations in the LMX1B gene, which encodes the LIM homeodomain transcription factor protein (LMX1B). We report a case of corneal leucoma and dysplasia prior to overt steroid-resistant nephrotic syndrome (SRNS) in a patient with NPS. At presentation, the parents of a 5-year-old female patient reported their daughter had corneal leucoma, psychomotor delay and speech defect. We also noted the presence of bilateral edema of the lower extremities, hypertension, nail dystrophy, and the bilateral absence of patella. She developed steroid-resistant nephrotic syndrome. Lowe oculocerebrorenal syndrome and NPS were the conditions considered in differential diagnosis. Trio-based whole genome sequencing indicated a heterozygous de novo likely pathogenic variation in the LMX1B gene (c.805A>C [p.Asn269His]). Patients with NPS often develop nail, ocular, or orthopedic symptoms prior to nephrotic syndrome. Corneal leucoma may be a novel clinical presentation of NPS.

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

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 p.R138Q and p.R229Q Screening In NPHS2 Gene in a Moroccan Cohort with Steroid Resistant Nephrotic Syndrome

2021 ◽  
Vol 04 (11) ◽  
Author(s):  
ABDOUSS Fatima ◽  
Keyword(s):  
Nephrotic Syndrome ◽  
Autosomal Recessive ◽  
Adult Patients ◽  
Gene Encoding ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
Nphs2 Gene ◽  
Prevalent Mutation

Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal-recessive form of nonsyndromic steroid-resistant nephrotic syndrome in both pediatric and adult patients. The p.R138Q (c.413G>A) mutation in exon 3 was the most prevalent mutation in European series. The p.R229Q (c.686G>A) variant in exon 5 is the first human variant discovered with a mutation-dependent pathogenicity. We aimed in this study to screen for the p.R138Q mutation and the p.R138Q variant in a Moroccan cohort with Steroid Resistant Nephrotic Syndrome.

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.

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