Treatment-resistant nephrotic syndrome generally presents in the third month of life, but albuminuria may be present from birth 1. Etiology Five monogenic mutations have been implicated in the pathogenesis of Galloway-Mowat syndrome. [radiopaedia.org]

Case Presentation A 26-month-old boy presented to our hospital with periorbital edema and ascites. The patient was being followed up at another center for nystagmus and microcephaly. He was the only child of a nonconsanguineous healthy couple. [hindawi.com]

Continuous variables are presented as medians (ranges), and categorical variables are presented as percentages. [ncbi.nlm.nih.gov]

Case presentation We present the clinical and genetic characteristics of two unrelated infants with clinical suspicion of GAMOS who were born from consanguineous parents. [bmcnephrol.biomedcentral.com]

(original magnification × 400). c Many granular casts are present with marked tubular ectasia. [ojrd.biomedcentral.com]

• Asymptomatic

  History and Symptoms The majority of patients with [disease name] are asymptomatic. OR The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. [wikidoc.org]

  Renal presentations range from asymptomatic proteinuria to SRNS. Although early-onset nephrotic syndrome is more common, later onset during childhood has also been reported. [ojrd.biomedcentral.com]

• Decrease in Height

  […] body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abnormality of immune system physiology 0010978 Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormality [ more ] 0000164 Abnormality of the intervertebral [rarediseases.info.nih.gov]

• Global Developmental Delay

  80%-99% of people have these symptoms Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Global developmental delay 0001263 Hypoplasia of [rarediseases.info.nih.gov]

  developmental delay: the Galloway Mowat Syndrome. 61 Krishnamurthy S...Zenker M 22144119 2012 29 Galloway-Mowat syndrome: neurologic features in two sibling pairs. 61 Ekstrand JJ...Stafstrom CE 22759691 2012 30 Diffuse mesangial sclerosis - Report of [malacards.org]

  Infantile nephrotic syndrome with microcephaly and global developmental delay: The Galloway Mowat syndrome. Indian J Pediatr 2012;798:1087-1090. [ Links ] 15. Pezzella M, Yeghiazaryan NS, Veggiotti P, et al. [scielo.mec.pt]

  Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway-Mowat syndrome. Indian J Pediatr. 2012;79:1087-1090. http://www.ncbi.nlm.nih.gov/pubmed/22144119 Pezzella M, Yeghiazaryan NS, Veggiotti P, et al. [rarediseases.org]

  The clinical neurologic manifestations in our patients included microcephaly at birth (6/6), global developmental delay (6/6), hypotonia (6/6), intractable seizure (5/6), and structural brain abnormalities, including pachygyria (6/6), myelination defect [ojrd.biomedcentral.com]

Clinical Testing and Workup In affected infants, symptoms associated with nephrotic syndrome may become apparent within days, weeks, months, or in some cases, years after birth. [rarediseases.org]

In consideration of the various renal manifestations of OSGEP mutations, patients should undergo a complete nephrological workup. [ncbi.nlm.nih.gov]

Treatment and prognosis There is no treatment for Galloway-Mowat syndrome 1. Affected individuals may survive for one year 1. References Promoted articles (advertising) [radiopaedia.org]

OR Surgery is not the first-line treatment option for patients with [disease name]. [wikidoc.org]

Treatment with corticosteroids and/or immunosuppressive drugs has not been effective for nephrotic syndrome associated with Galloway-Mowat syndrome. [rarediseases.org]

Currently, no effective treatment for congenital NS in GAMOS3 is available. [ncbi.nlm.nih.gov]

A stepwise approach to the treatment of early onset nephrotic syndrome. Pediatr Nephrol. 2000; 14: 1077-1082 Robain O. Deonna T. Pachygyria and congenital nephrosis: Disorder of migration and neuronal orientation. [pedneur.com]

Overall, the long-term prognosis is not favourable, especially in early-onset cases, while the prognosis in late-onset cases, as in ours, is somewhat favourable. [scielo.mec.pt]

Treatment and prognosis There is no treatment for Galloway-Mowat syndrome 1. Affected individuals may survive for one year 1. References Promoted articles (advertising) [radiopaedia.org]

Conclusion: GAMOS3 is a progressive renal-neurological syndrome with a poor prognosis, especially with congenital NS. Microcephaly with dysmorphic features are vital clues to further evaluate renal impairment and brain anomalies. [pubmed.ncbi.nlm.nih.gov]

The prognosis for patients with GAMOS3 was poor, with a median survival of 8 months. Microcephaly (92%, 34/37) seems to be the more important clue for the timely diagnosis of GAMOS3 than early-onset NS. [ncbi.nlm.nih.gov]

OR Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%. [wikidoc.org]

The etiology of GAMOS has a heterogeneous genetic contribution. Mutations in more than 10 different genes have been reported in GAMOS patients. [xenbase.org]

Etiology Five monogenic mutations have been implicated in the pathogenesis of Galloway-Mowat syndrome. WD repeat-containing protein 73 (WDR73), which is a critical scaffold component of protein-complex assembly, was the first to be identified 1,2. [radiopaedia.org]

However, the genetic etiology of more than three-quarters of patients with a clinical diagnosis of GAMOS remains elusive, suggesting that additional causative genes remain to be identified. [bmcnephrol.biomedcentral.com]

Epidemiology and Demographics Galloway-Mowat syndrome affects males and females in equal numbers. More than 70 cases have been reported in the medical literature. [wikidoc.org]

OR The pathophysiology of [disease/malignancy] depends on the histological subtype. Causes In 2014, Galloway-Mowat syndrome was shown to be caused by alterations (mutations) in the WDR73 gene in a subset of cases. [wikidoc.org]

In 1994, Cohen and Turner examined kidney tissues of the patients using antibodies against glomerular basal membrane, tubular basal membrane, type IV collagen, and laminin along with different stains in an attempt to understand the pathophysiology of [hindawi.com]

Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3]. Secondary Prevention There are no established measures for the secondary prevention of [disease name]. [wikidoc.org]

Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]

In our clinical experience, appropriate supportive care, including the maintenance of internal homeostasis, adequate nutrition and the prevention and treatment of infection (18), may temporarily alleviate clinical symptoms. [ncbi.nlm.nih.gov]