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Neonatal Hemochromatosis

Presentation

Eleven neonates who presented with suspected neonatal liver failure were included in the study. The sex, gestational age, and presenting signs and symptoms are listed in Table 1. Patients 6 and 7 were siblings. [jamanetwork.com]

At present, there is no effective approach to prenatal diagnosis. Case Report: A 23-year-old pregnant woman presented at 32 weeks of gestation with oligohydramnios and hyperechogenic liver focus on ultrasound. [revistas.rcaap.pt]

Scarring from macrophages, which contain high levels of stainable iron, may be present. [emedicine.medscape.com]

Clinical findings GALD can present anytime from 18 weeks gestation to 3 months post-delivery. The majority of infants present with liver failure within hours of birth. [ncbi.nlm.nih.gov]

Summary Neonatal hemochromatosis (NH) is a very rare disease, although a common cause of neonatal liver failure.We present a newborn with severe liver failure and renal dysfunction, who died due to cardio-respiratory insufficiency. [link.springer.com]

Workup

Other Pathologies

  • Hepatic Necrosis

    The autopsy of the fifth patient who died (patient 9), whose antemortem lip specimen had been negative, demonstrated massive hepatic necrosis suggestive of a viral cause and no evidence of NH. [jamanetwork.com]

Treatment

The purpose of treatment is to limit the elaboration of immunoglobulin (mother's immune attack) directed against the fetus (baby). [luriechildrens.org]

Standard Therapies Treatment The treatment of neonatal hemochromatosis is controversial. [rarediseases.org]

[citation needed] Treatment[edit] Effective treatment of the disease has been confined to liver transplants. Success has also been reported with an antioxidant chelation cocktail, though its effectiveness cannot be confirmed. [en.wikipedia.org]

Second, medical treatment must be initiated as soon as possible to stabilize the patient and allow for liver transplantation.2-4 Occasionally, medical treatment is successful in its own right. [jamanetwork.com]

Prognosis

Establishment of the diagnosis in an affected fetus or newborn may have a major impact for the prognosis of disease and for the outcome of future pregnancies. Downloads Download data is not yet available. [revistas.rcaap.pt]

The prognosis is extremely poor. Some infants recover with supportive care, but this rarely occurs. Suggest genetic counseling if the parents of a child with neonatal hemochromatosis desire to have another child. [emedicine.medscape.com]

First, prognosis is invariably fatal without aggressive medical therapy and/or a liver transplant, and the management plan must be established early. [jamanetwork.com]

Treatment Literature suggests that the prognosis for severe NH without intervention is very poor. [ncbi.nlm.nih.gov]

Etiology

Neonatal hemochromatosis is not a single disorder but is a syndrome with an unclear etiology. [emedicine.medscape.com]

The medication is benign and a single dose poses little risk to the newborn, regardless of disease etiology. [ncbi.nlm.nih.gov]

Epidemiology

Epidemiology Neonatal hemochromatosis is rare. [6] To date, no rates of this disease are reported. Studies suggest a genetic prevalence of 0.03-0.038 or a heterozygosity prevalence of 6-7%. [emedicine.medscape.com]

Retrospective epidemiological study of Latin American patients with transfusional hemosiderosis: the first Latin American epidemiological study in iron overload--the RELATH study. [medicinaylaboratorio.com]

Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res. 2011;26(10):2317–37. DOI : 10.1002/jbmr.483. [ncbi.nlm.nih.gov]

Pathophysiology

Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res. 2011;26(10):2317–37. DOI : 10.1002/jbmr.483. [ncbi.nlm.nih.gov]

Pathophysiology In hemochromatosis, hepatocytes are the first site of iron deposition. Liver tissue of affected infants displays severe injury with marked loss of hepatocytes. [emedicine.medscape.com]

In: Kleinman RE, Goulet O-J, Sherman PM, Sanderson IR, Shneider BL, Walker WA, eds, Walker’s Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management. 5th ed. Hamilton, Ontario: BC Decker; 2008:1049-56. [rarediseases.org]

In: Sleisenger and Fordtran's Gastrointestinal and liver disease pathophysiology diagnosis management, edited by Feldman M, Friedman LS, Brandt LJ. Philadelphia: Saunders Elsevier, 2016, p. 1409-1427. [medicinaylaboratorio.com]

Prevention

These findings suggest that a simple therapy might prevent this devastating disease. Further study is underway to confirm these results. [luriechildrens.org]

The most promising treatments are then moved into clinical trials, with the goal of identifying new ways to safely and effectively prevent, screen for, diagnose, or treat a disease. [liverfoundation.org]

The discovery of the alloimmune etiology of NH has impacted approaches to its diagnosis, treatment, and prevention. [ncbi.nlm.nih.gov]

Therapy aimed at preventing neonatal hemochromatosis before it occurs has proven very effective. [rarediseases.org]

Neonatal hemochromatosis: Management, outcome, and prevention. Prenatal Diagnosis. 2013;33(13):1221-1225. doi:10.1002/pd.4232 Whitington, PF., Pan, X., Kelly, S., Melin-Aldana, H., Malladi, P. [ojs.actapediatrica.org.mx]

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