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]

A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus. [go.gale.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]

  In this paper seven cases of children, ranging from 11 months to 7 year-old, with concomitant nephrotic syndrome and asymptomatic acute T. gondii infection are reported. [biblioteca.posgraduacaoredentor.com.br]

• Pallor

  Eye exam revealed intermittent alternating exotropia, partial optic atrophy, cortical visual impairment, and temporal optic disc pallor. Renal ultrasound and metabolic screening have remained normal until age 1.5 years. [ncbi.nlm.nih.gov]

• Psychomotor Retardation

  A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus. [go.gale.com]

  Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs. Eur J Pediatr. 1987; 146: 532-536 Nakazato H. Hattori S. Karashima S. et al. [pedneur.com]

  Coenzyme Q10 was also administered because of the psychomotor retardation. The urine organic acid screening and tandem mass spectrometry results were normal. [hindawi.com]

  Congenital microcephaly, infatile spasms, psychomotor retardation and nephritic syndrome in two sibe. Eur J Pediatr 1987;146:532-6. 7. Joh K, Usui N, Aizawa S, et al. [sjkdt.org]

• Suggestibility

  These findings suggest that the KEOPS complex plays an important role during vertebrate embryonic development. [xenbase.org]

  Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3]. [wikidoc.org]

  Clinical Features and Genetics Indications for Test Candidates for this test are patients with symptoms suggestive of Galloway-Mowat syndrome (GAMOS). [preventiongenetics.com]

  We suggest that microcephaly should be considered an important factor in the diagnosis of GAMOS3. [frontiersin.org]

  WDR73 is expressed in brain and kidney, localizing to spindle poles during mitosis, suggesting a critical role in the maintenance of cell architecture and cell survival. [ncbi.nlm.nih.gov]

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]

• Hypoalbuminemia

  Prominent eye folds [ more ] 0000286 Flat occiput 0005469 Focal segmental glomerulosclerosis 0000097 Hand clenching Clenched hands 0001188 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperreflexia Increased reflexes 0001347 Hypoalbuminemia [rarediseases.info.nih.gov]

  Additional laboratory studies may reveal unusually low levels of albumin in an affected individual’s blood (hypoalbuminemia). [rarediseases.org]

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]

Citation metadata Document controls Main content Abstract : 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 [go.gale.com]

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

Parents should talk to the physician and medical team about their child’s specific case, associated symptoms and overall prognosis. [rarediseases.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]

Aiming at evaluating a possible etiologic participation of schistosomiasis in the development of the nephropathy, this group was comparatively studied with a group of 37 patients with idiopathic nephrotic syndrome. [biblioteca.posgraduacaoredentor.com.br]

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]