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]

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]

Continuous variables are presented as medians (ranges), and categorical variables are presented as percentages. [frontiersin.org]

Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible. [rareguru.com]

• Vomiting

  Such gastroesophageal reflux may cause affected infants to spit up and/or vomit repeatedly; in some cases, vomiting may be particularly forceful (projectile vomiting). [rarediseases.org]

• Failure to Thrive

  He showed a developmental delay and failure to thrive. At 7 days after birth, amplitude-integrated EEG results suggested delayed background activity maturity. [frontiersin.org]

  The patient evolved with failure to thrive, anemia, and electrolyte disorders and finally died from cardiorespiratory arrest in a sepsis context at 7 months of age. [bmcnephrol.biomedcentral.com]

• Hypertension

  The patient had hypertension (109/84 mmHg) and marked horizontal and vertical nystagmus. There was no facial dysmorphism. The abdominal examination showed gross ascites. [hindawi.com]

  The causes of death included unknown cause (59%, 16/27), multiorgan failure (22%, 6/27), cardiopulmonary collapse (11%, 3/27), hypertensive crisis (4%, 1/27) and neurological deterioration (4%, 1/27). [frontiersin.org]

  Forty-five days after birth, the patient was diagnosed as having congenital nephrotic syndrome with severe proteinuria, hypertension, and hypothyroidism. He also presented edema, hyperkalemia, hyponatremia, and hypomagnesemia. [bmcnephrol.biomedcentral.com]

• Small Head

  Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability. Other physical abnormalities may also be present. [rareguru.com]

• Psychomotor Retardation

  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]

• Global Developmental Delay

  The patient may develop global developmental delay and spastic quadriplegia with limited joint mobility later in the life. [jcnonweb.com]

  Evaluation at 8 years showed severe global developmental delay and microcephaly (OFC: 45.5 cm, −7/−6 SD). She could not walk, could sit only with support and had not developed speech. [ncbi.nlm.nih.gov]

  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]

• Poor Spontaneous Movements

  On examination, baby was found to be dysmorphic with low set bat-shaped ears [Figure 1], absent red reflex, short neck, clinodactyly with clenched hands [Figure 2], single crease, poor spontaneous movements, undescended testes, arthrogryposis (limited [jcnonweb.com]

• Abnormal Gait

  Gait-Facial Dysmorphism Syndrome AD 99.31 22 of 22 WDR4 Galloway- Mowat Syndrome, Microcephaly, Growth Deficiency, Seizures, And Brain Malformations, Galloway- Mowat Syndrome AR 99.91 7 of 7 WDR62 Autosomal Recessive Primary Microcephaly AR 100 60 of [igenomix.es]

• Spastic Quadriplegia

  The patient may develop global developmental delay and spastic quadriplegia with limited joint mobility later in the life. [jcnonweb.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]

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]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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]

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]

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]