Xerocytosis with concomitant intrauterine ascites: first description and therapeutic approach [letter]

Entezami, Michael; Becker, Ronald M.; Menssen, H D; Marcinkowski, Marcin; Versmold, H.

doi:10.1182/blood.v87.12.5392.bloodjournal87125392

Cited by 41 publications

(27 citation statements)

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“…Some individuals present with chylothoraces upon the commencement of feeding. Entezami and colleagues treated a case of intra-uterine anaemia but they were not able to cure the oedema, suggesting that the anaemia was not the cause of the oedema (Entezami et al 1996). It has been suggested that the ascites can be of hepatic origin (Rees et al 2004).…”

Section: Dhs: Dehydrated Hereditary Stomatocytosis -A Gain-of-functiomentioning

confidence: 99%

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

Martin-Almedina

Mansour

Østergaard

2018

The Journal of Physiology

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PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive generalised lymphatic dysplasia of Fotiou (GLDF) and autosomal dominant dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema (DHS). The two disorders show overlapping features, fetal hydrops/perinatal oedema have been reported in both. Electrophysiological studies suggest opposite mechanisms of action: the mutations identified in GLDF patients cause a loss-of-function mechanism of disease and mutations in DHS patients cause gain of function. This raises the question: Is the pathogenic disease mechanism behind the fetal oedema the same in the two phenotypes? In this Symposium Review, we will discuss the two conditions and highlight key questions that remain to be answered. For instance, the perinatal oedema often resolves soon after birth and we are still at a loss to understand why. Are there any mechanisms which could compensate for the faulty PIEZO1 in these patients? Are there physiological changes at birth that are less reliant on the function of PIEZO1? Thus, there is a clear need for further studies into the two disorders, in order to fully understand the role of PIEZO1 in health and disease.

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Section: Dhs: Dehydrated Hereditary Stomatocytosis -A Gain-of-functiomentioning

confidence: 99%

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

Martin-Almedina

Mansour

Østergaard

2018

The Journal of Physiology

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“…To our knowledge, seven cases of prenatal management of DHS have been described in the literature (Entezami et al, 1996;Grootenboer et al, 1998Grootenboer et al, , 2001Basu et al, 2003;Grootenboer-Mignot et al, 2003;Sánchez et al, 2005;Vicente-Gutiérrez et al, 2005).…”

Section: Familymentioning

confidence: 99%

“…Only two had prenatal diagnoses of DHS, with cordocentesis at 25 weeks that showed a low potassium concentration in red blood cells, increased osmotic resistance and mild fetal regenerative anemia with low serum protein levels (Entezami et al, 1996;Grootenboer-Mignot et al, 2003). The other cases were only strongly suspected to be related to DHS due to family history and prenatal presentation.…”

Section: Familymentioning

confidence: 99%

“…In our cases, increased nuchal translucency measurement was the initial manifestation of DHSt. The condition is a pleiotropic syndrome which includes perinatal effusions and pseudohyperkalemia (Entezami et al, 1996;Carella et al, 1998). The mechanism by which perinatal edema and ascites develop in fetal DHS has not yet been elucidated, and it has been argued that it may be due to cardiovascular, hepatic or lymphatic problems.…”

Section: Familymentioning

confidence: 99%

“…To our knowledge, no publication describes predictive factors for severity of fetal edema in DHS families. Hydrops does not appear to be related to either fetal anemia or hypoalbuminemia (Grootenboer et al, 2001); it does not change substantially after blood transfusion (Grootenboer et al, 1998;Entezami et al, 1996) and tends to resolve spontaneously in late gestation. Although ektacytometry can be performed prenatally by cordocentesis, noninvasive management is reasonable in While an intrauterine thoraco-amniotic shunt might be considered to prevent lung hypoplasia, as proposed in isolated compressive chylothorax (Picone et al, 2004), there is no information available on the efficacy of the procedure in the context of DHS.…”

Section: Familymentioning

confidence: 99%

See 2 more Smart Citations

First‐trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis

Ami¹,

Picone²,

Garçon³

et al. 2009

Prenatal Diagnosis

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Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia with autosomal dominant mode of transmission (OMIM #194 380). The diagnosis rests upon documentation of high osmotic resistance and erythrocyte dehydration at ectacytometric studies of the red blood cells. We describe three affected fetuses which manifested first-trimester nuchal abnormalities. Medical data were anonymously stored and protected according to CNIL's recommendations (Commission Nationale Informatique et Liberté, authorization numbers 1 181 076 and 444 971). FAMILY 1A 29-year-old woman, gravida 1 para 0, with DHSt, diagnosed during investigation for hyperferritinemia in adulthood, was referred to our prenatal diagnostic center at 13.5 weeks of gestation because of an 8 mm nuchal translucency with cystic hygromas diagnosed during the first-trimester ultrasound. There was no other known case of DHS in the family. Chorionic villus sampling revealed a normal karyotype (46,XY). Serial ultrasound scans (every 2 weeks in the first and the second trimesters, and every week in the third) documented severe generalized edema, ascites and persistent cystic hygroma that continued to increase until term ( Figure 1). The abdominal perimeter measured consistently above the 95th percentile; associated structural abnormalities were ruled out. Because the values for peak systolic flow velocity in the middle cerebral artery remained in the normal range throughout the pregnancy, fetal blood sampling was not attempted to rule out fetal anemia. At 32 weeks, 400 mL of transparent fluid was drained from the hygroma and 300 mL from the ascites. The karyotype was confirmed as normal. Tests for storage diseases, digestive enzymes and infections were negative. After drainage of the hygroma (700 mL) to prevent fetal dystocia during delivery, a cesarean section was nonetheless performed at 37 weeks because of premature rupture of the membranes and a breech presentation. The newborn, a 3450-g boy (90th percentile), had generalized edema, renal insufficiency, right ventricular dysfunction due to pulmonary artery hypertension, cholestasis and cytolytic hepatitis. His hemoglobin level was 13.8 g/dL, with a mean corpuscular volume around 110 fL. The ektacytometric curve was markedly left-shifted, as typically found in DHS (Figure 2). Generalized edema persisted after birth, associated with marked jaundice and pseudohyperkalemia. The baby died 15 days after birth. The parents refused an autopsy. FAMILY 2This 27-year-old woman, gravida 1 para 0, was referred at 18 weeks to our prenatal diagnosis center with a diagnosis of fetal hydrops. The first-trimester ultrasound examination noted nuchal translucency of 5 mm, but chorionic villus sampling was not performed because of recent vaginal bleeding. The parents consented to amniocentesis, which found a normal karyotype (46,XX). Tests for storage diseases and infections were negative. The father reported that at birth, he had had the full-fledged pleiotropic syndrome of DHS, with pseudohyperkalemia and perinatal ...

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Recent advances in the pathophysiology of PIEZO1‐related hereditary xerocytosis

et al. 2021

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Hereditary xerocytosis is a rare red blood cell disease related to gain-of-function mutations in the FAM38A gene, encoding PIEZO1, in 90% of cases; PIEZO1 is a broadly expressed mechano-transducer that plays a major role in many cell systems and tissues that respond to mechanical stress. In erythrocytes, PIEZO1 adapts the intracellular ionic content and cell hydration status to the mechanical constraints induced by the environment. Until recently, the pathophysiology of hereditary xerocytosis was mainly believed to be based on the "PIEZO1-Gardos channel axis" in erythrocytes, according to which PIEZO1-activating mutations induce a calcium influx that secondarily activates the Gardos channel, leading to potassium and water efflux and subsequently to red blood cell dehydration. However, recent studies have demonstrated additional roles for PIEZO1 during early erythropoiesis and reticulocyte maturation, as well as roles in other tissues and cells such as lymphatic vessels, hepatocytes, macrophages and platelets that may affect the pathophysiology of the disease. These findings, presented and discussed in this review, broaden our understanding of hereditary xerocytosis beyond that of primarily being a red blood cell disease and identify potential therapeutic targets. | INTRODUCTIONThe PIEZO proteins are a family of mechano-transducers first described in a neuron derived cell line in 2010. 1 The two members are PIEZO1, encoded by FAM38A on chromosome 16, and PIEZO2, encoded by FAM38B on chromosome 18. They are expressed in many tissues. 1,2 The structure of PIEZO1 has been recently elucidated. A first description of the murine protein revealed its three-dimensional structure, consisting of a three-bladed homotrimeric transmembrane helix completed by an extracellular cap. An intra-cytoplasmic domain, split into three parts, called "beams," extends from the transmembrane domain. The C-terminal end of each monomer has an extracellular domain (ECD), which forms the cap, and an intracellular domain (CTD), which appears to be connected to the paddles by the beams and closes the inner ion pore (Figure 1). The assembly provides a hydrophilic central transmembrane duct bordered by six helices that allows the passage of ions. Thus PIEZO1 constitutes a mechanosensitive ion channel due to the flexibility of the three blades. 1 Deformation of the plasma membrane subsequent to mechanical stimulation induces rotation of the PIEZO1 blades, transmitting such deformation to the ECD and CTD domains, allowing the ion channel to open using a lever-like mechanism. 2 When a compressive force is applied parallel to the axis of the ion channel, it induces lateral membrane tension, resulting in flattening and widening of PIEZO1, which causes the pore to open and allows the passage of ions. Such deformations are reversible, and PIEZO1 returns rapidly to its original conformation. [3][4][5] After opening, PIEZO1 acts as a passive channel for mono/divalent cations depending on their extracellular-intracellular Nicolas Jankovsky and Alexis Caulier...

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Xerocytosis with concomitant intrauterine ascites: first description and therapeutic approach [letter]

Cited by 41 publications

References 0 publications

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

First‐trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis

Recent advances in the pathophysiology of PIEZO1‐related hereditary xerocytosis

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